UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22262978_22262989del | CA2695213372 | ANO5 | c.1383_1394del (p.Thr462_Thr465del) c.1791_1802del (p.Thr598_Thr601del) n.2827_2838del c.1788_1799del (p.Thr597_Thr600del) c.1833_1844del (p.Thr612_Thr615del) n.2168_2179del c.1830_1841del (p.Thr611_Thr614del) c.1755_1766del (p.Thr586_Thr589del) c.1752_1763del (p.Thr585_Thr588del) c.1740_1751del (p.Thr581_Thr584del) | |
| 11 | g.22262981_22262983delinsCCA | CA1957420195 | ANO5 | c.1386_1388delinsCCA (p.Thr462=) c.1794_1796delinsCCA (p.Thr598=) n.2830_2832delinsCCA c.1791_1793delinsCCA (p.Thr597=) c.1836_1838delinsCCA (p.Thr612=) n.2171_2173delinsCCA c.1833_1835delinsCCA (p.Thr611=) c.1758_1760delinsCCA (p.Thr586=) c.1755_1757delinsCCA (p.Thr585=) c.1743_1745delinsCCA (p.Thr581=) | |
| 11 | g.22262982_22262983del | CA1957420196 | ANO5 | c.1387_1388del (p.Gln463IlefsTer15) c.1795_1796del (p.Gln599IlefsTer15) n.2831_2832del c.1792_1793del (p.Gln598IlefsTer15) c.1837_1838del (p.Gln613IlefsTer15) n.2172_2173del c.1834_1835del (p.Gln612IlefsTer15) c.1759_1760del (p.Gln587IlefsTer15) c.1756_1757del (p.Gln586IlefsTer15) c.1744_1745del (p.Gln582IlefsTer15) | dbSNP gnomAD v4 |
| 11 | g.22262983A>C | CA379922951 | ANO5 | c.1388A>C (p.Gln463Pro) c.1796A>C (p.Gln599Pro) n.2832A>C c.1793A>C (p.Gln598Pro) c.1838A>C (p.Gln613Pro) n.2173A>C c.1835A>C (p.Gln612Pro) c.1760A>C (p.Gln587Pro) c.1757A>C (p.Gln586Pro) c.1745A>C (p.Gln582Pro) | |
| 11 | g.22262983A>G | CA379922952 | ANO5 | c.1388A>G (p.Gln463Arg) c.1796A>G (p.Gln599Arg) n.2832A>G c.1793A>G (p.Gln598Arg) c.1838A>G (p.Gln613Arg) n.2173A>G c.1835A>G (p.Gln612Arg) c.1760A>G (p.Gln587Arg) c.1757A>G (p.Gln586Arg) c.1745A>G (p.Gln582Arg) | |
| 11 | g.22262983A>T | CA379922953 | ANO5 | c.1388A>T (p.Gln463Leu) c.1796A>T (p.Gln599Leu) n.2832A>T c.1793A>T (p.Gln598Leu) c.1838A>T (p.Gln613Leu) n.2173A>T c.1835A>T (p.Gln612Leu) c.1760A>T (p.Gln587Leu) c.1757A>T (p.Gln586Leu) c.1745A>T (p.Gln582Leu) | |
| 11 | g.22262984A= | CA1957420198 | ANO5 | c.1389A= (p.Gln463=) c.1797A= (p.Gln599=) n.2833A= c.1794A= (p.Gln598=) c.1839A= (p.Gln613=) n.2174A= c.1836A= (p.Gln612=) c.1761A= (p.Gln587=) c.1758A= (p.Gln586=) c.1746A= (p.Gln582=) | |
| 11 | g.22262984A>C | CA379922955 | ANO5 | c.1389A>C (p.Gln463His) c.1797A>C (p.Gln599His) n.2833A>C c.1794A>C (p.Gln598His) c.1839A>C (p.Gln613His) n.2174A>C c.1836A>C (p.Gln612His) c.1761A>C (p.Gln587His) c.1758A>C (p.Gln586His) c.1746A>C (p.Gln582His) | |
| 11 | g.22262984A>G | CA5923371 | ANO5 | c.1389A>G (p.Gln463=) c.1797A>G (p.Gln599=) n.2833A>G c.1794A>G (p.Gln598=) c.1839A>G (p.Gln613=) n.2174A>G c.1836A>G (p.Gln612=) c.1761A>G (p.Gln587=) c.1758A>G (p.Gln586=) c.1746A>G (p.Gln582=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22262984A>T | CA379922954 | ANO5 | c.1389A>T (p.Gln463His) c.1797A>T (p.Gln599His) n.2833A>T c.1794A>T (p.Gln598His) c.1839A>T (p.Gln613His) n.2174A>T c.1836A>T (p.Gln612His) c.1761A>T (p.Gln587His) c.1758A>T (p.Gln586His) c.1746A>T (p.Gln582His) | |
| 11 | g.22262985T>A | CA379922956 | ANO5 | c.1390T>A (p.Leu464Met) c.1798T>A (p.Leu600Met) n.2834T>A c.1795T>A (p.Leu599Met) c.1840T>A (p.Leu614Met) n.2175T>A c.1837T>A (p.Leu613Met) c.1762T>A (p.Leu588Met) c.1759T>A (p.Leu587Met) c.1747T>A (p.Leu583Met) | gnomAD v4 |
| 11 | g.22262985T>C | CA5923372 | ANO5 | c.1390T>C (p.Leu464=) c.1798T>C (p.Leu600=) n.2834T>C c.1795T>C (p.Leu599=) c.1840T>C (p.Leu614=) n.2175T>C c.1837T>C (p.Leu613=) c.1762T>C (p.Leu588=) c.1759T>C (p.Leu587=) c.1747T>C (p.Leu583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262985T>G | CA379922957 | ANO5 | c.1390T>G (p.Leu464Val) c.1798T>G (p.Leu600Val) n.2834T>G c.1795T>G (p.Leu599Val) c.1840T>G (p.Leu614Val) n.2175T>G c.1837T>G (p.Leu613Val) c.1762T>G (p.Leu588Val) c.1759T>G (p.Leu587Val) c.1747T>G (p.Leu583Val) | |
| 11 | g.22262985T= | CA1957420199 | ANO5 | c.1390T= (p.Leu464=) c.1798T= (p.Leu600=) n.2834T= c.1795T= (p.Leu599=) c.1840T= (p.Leu614=) n.2175T= c.1837T= (p.Leu613=) c.1762T= (p.Leu588=) c.1759T= (p.Leu587=) c.1747T= (p.Leu583=) | |
| 11 | g.22262986T>A | CA379922958 | ANO5 | c.1391T>A (p.Leu464Ter) c.1799T>A (p.Leu600Ter) n.2835T>A c.1796T>A (p.Leu599Ter) c.1841T>A (p.Leu614Ter) n.2176T>A c.1838T>A (p.Leu613Ter) c.1763T>A (p.Leu588Ter) c.1760T>A (p.Leu587Ter) c.1748T>A (p.Leu583Ter) | |
| 11 | g.22262986T>C | CA379922959 | ANO5 | c.1391T>C (p.Leu464Ser) c.1799T>C (p.Leu600Ser) n.2835T>C c.1796T>C (p.Leu599Ser) c.1841T>C (p.Leu614Ser) n.2176T>C c.1838T>C (p.Leu613Ser) c.1763T>C (p.Leu588Ser) c.1760T>C (p.Leu587Ser) c.1748T>C (p.Leu583Ser) | |
| 11 | g.22262986T>G | CA379922960 | ANO5 | c.1391T>G (p.Leu464Trp) c.1799T>G (p.Leu600Trp) n.2835T>G c.1796T>G (p.Leu599Trp) c.1841T>G (p.Leu614Trp) n.2176T>G c.1838T>G (p.Leu613Trp) c.1763T>G (p.Leu588Trp) c.1760T>G (p.Leu587Trp) c.1748T>G (p.Leu583Trp) | |
| 11 | g.22262987G>A | CA473407333 | ANO5 | c.1392G>A (p.Leu464=) c.1800G>A (p.Leu600=) n.2836G>A c.1797G>A (p.Leu599=) c.1842G>A (p.Leu614=) n.2177G>A c.1839G>A (p.Leu613=) c.1764G>A (p.Leu588=) c.1761G>A (p.Leu587=) c.1749G>A (p.Leu583=) | |
| 11 | g.22262987G>C | CA379922961 | ANO5 | c.1392G>C (p.Leu464Phe) c.1800G>C (p.Leu600Phe) n.2836G>C c.1797G>C (p.Leu599Phe) c.1842G>C (p.Leu614Phe) n.2177G>C c.1839G>C (p.Leu613Phe) c.1764G>C (p.Leu588Phe) c.1761G>C (p.Leu587Phe) c.1749G>C (p.Leu583Phe) | |
| 11 | g.22262987G>T | CA379922962 | ANO5 | c.1392G>T (p.Leu464Phe) c.1800G>T (p.Leu600Phe) n.2836G>T c.1797G>T (p.Leu599Phe) c.1842G>T (p.Leu614Phe) n.2177G>T c.1839G>T (p.Leu613Phe) c.1764G>T (p.Leu588Phe) c.1761G>T (p.Leu587Phe) c.1749G>T (p.Leu583Phe) | gnomAD v4 |
| 11 | g.22262988A>C | CA379922963 | ANO5 | c.1393A>C (p.Thr465Pro) c.1801A>C (p.Thr601Pro) n.2837A>C c.1798A>C (p.Thr600Pro) c.1843A>C (p.Thr615Pro) n.2178A>C c.1840A>C (p.Thr614Pro) c.1765A>C (p.Thr589Pro) c.1762A>C (p.Thr588Pro) c.1750A>C (p.Thr584Pro) | |
| 11 | g.22262988A>G | CA379922964 | ANO5 | c.1393A>G (p.Thr465Ala) c.1801A>G (p.Thr601Ala) n.2837A>G c.1798A>G (p.Thr600Ala) c.1843A>G (p.Thr615Ala) n.2178A>G c.1840A>G (p.Thr614Ala) c.1765A>G (p.Thr589Ala) c.1762A>G (p.Thr588Ala) c.1750A>G (p.Thr584Ala) | gnomAD v4 |
| 11 | g.22262988A>T | CA379922965 | ANO5 | c.1393A>T (p.Thr465Ser) c.1801A>T (p.Thr601Ser) n.2837A>T c.1798A>T (p.Thr600Ser) c.1843A>T (p.Thr615Ser) n.2178A>T c.1840A>T (p.Thr614Ser) c.1765A>T (p.Thr589Ser) c.1762A>T (p.Thr588Ser) c.1750A>T (p.Thr584Ser) | |
| 11 | g.22262989C>A | CA379922968 | ANO5 | c.1394C>A (p.Thr465Asn) c.1802C>A (p.Thr601Asn) n.2838C>A c.1799C>A (p.Thr600Asn) c.1844C>A (p.Thr615Asn) n.2179C>A c.1841C>A (p.Thr614Asn) c.1766C>A (p.Thr589Asn) c.1763C>A (p.Thr588Asn) c.1751C>A (p.Thr584Asn) | |
| 11 | g.22262989C>G | CA379922967 | ANO5 | c.1394C>G (p.Thr465Ser) c.1802C>G (p.Thr601Ser) n.2838C>G c.1799C>G (p.Thr600Ser) c.1844C>G (p.Thr615Ser) n.2179C>G c.1841C>G (p.Thr614Ser) c.1766C>G (p.Thr589Ser) c.1763C>G (p.Thr588Ser) c.1751C>G (p.Thr584Ser) | |
| 11 | g.22262989C>T | CA379922966 | ANO5 | c.1394C>T (p.Thr465Ile) c.1802C>T (p.Thr601Ile) n.2838C>T c.1799C>T (p.Thr600Ile) c.1844C>T (p.Thr615Ile) n.2179C>T c.1841C>T (p.Thr614Ile) c.1766C>T (p.Thr589Ile) c.1763C>T (p.Thr588Ile) c.1751C>T (p.Thr584Ile) | |
| 11 | g.22262990C>A | CA473407334 | ANO5 | c.1395C>A (p.Thr465=) c.1803C>A (p.Thr601=) n.2839C>A c.1800C>A (p.Thr600=) c.1845C>A (p.Thr615=) n.2180C>A c.1842C>A (p.Thr614=) c.1767C>A (p.Thr589=) c.1764C>A (p.Thr588=) c.1752C>A (p.Thr584=) | |
| 11 | g.22262990C= | CA1957420200 | ANO5 | c.1395C= (p.Thr465=) c.1803C= (p.Thr601=) n.2839C= c.1800C= (p.Thr600=) c.1845C= (p.Thr615=) n.2180C= c.1842C= (p.Thr614=) c.1767C= (p.Thr589=) c.1764C= (p.Thr588=) c.1752C= (p.Thr584=) | |
| 11 | g.22262990C>G | CA473407335 | ANO5 | c.1395C>G (p.Thr465=) c.1803C>G (p.Thr601=) n.2839C>G c.1800C>G (p.Thr600=) c.1845C>G (p.Thr615=) n.2180C>G c.1842C>G (p.Thr614=) c.1767C>G (p.Thr589=) c.1764C>G (p.Thr588=) c.1752C>G (p.Thr584=) | |
| 11 | g.22262990C>T | CA5923373 | ANO5 | c.1395C>T (p.Thr465=) c.1803C>T (p.Thr601=) n.2839C>T c.1800C>T (p.Thr600=) c.1845C>T (p.Thr615=) n.2180C>T c.1842C>T (p.Thr614=) c.1767C>T (p.Thr589=) c.1764C>T (p.Thr588=) c.1752C>T (p.Thr584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262991A= | CA1957420201 | ANO5 | c.1396A= (p.Ile466=) c.1804A= (p.Ile602=) n.2840A= c.1801A= (p.Ile601=) c.1846A= (p.Ile616=) n.2181A= c.1843A= (p.Ile615=) c.1768A= (p.Ile590=) c.1765A= (p.Ile589=) c.1753A= (p.Ile585=) | |
| 11 | g.22262991A>C | CA379922969 | ANO5 | c.1396A>C (p.Ile466Leu) c.1804A>C (p.Ile602Leu) n.2840A>C c.1801A>C (p.Ile601Leu) c.1846A>C (p.Ile616Leu) n.2181A>C c.1843A>C (p.Ile615Leu) c.1768A>C (p.Ile590Leu) c.1765A>C (p.Ile589Leu) c.1753A>C (p.Ile585Leu) | |
| 11 | g.22262991A>G | CA379922970 | ANO5 | c.1396A>G (p.Ile466Val) c.1804A>G (p.Ile602Val) n.2840A>G c.1801A>G (p.Ile601Val) c.1846A>G (p.Ile616Val) n.2181A>G c.1843A>G (p.Ile615Val) c.1768A>G (p.Ile590Val) c.1765A>G (p.Ile589Val) c.1753A>G (p.Ile585Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22262991A>T | CA379922971 | ANO5 | c.1396A>T (p.Ile466Phe) c.1804A>T (p.Ile602Phe) n.2840A>T c.1801A>T (p.Ile601Phe) c.1846A>T (p.Ile616Phe) n.2181A>T c.1843A>T (p.Ile615Phe) c.1768A>T (p.Ile590Phe) c.1765A>T (p.Ile589Phe) c.1753A>T (p.Ile585Phe) | |
| 11 | g.22262992T>A | CA379922972 | ANO5 | c.1397T>A (p.Ile466Asn) c.1805T>A (p.Ile602Asn) n.2841T>A c.1802T>A (p.Ile601Asn) c.1847T>A (p.Ile616Asn) n.2182T>A c.1844T>A (p.Ile615Asn) c.1769T>A (p.Ile590Asn) c.1766T>A (p.Ile589Asn) c.1754T>A (p.Ile585Asn) | |
| 11 | g.22262992T>C | CA379922973 | ANO5 | c.1397T>C (p.Ile466Thr) c.1805T>C (p.Ile602Thr) n.2841T>C c.1802T>C (p.Ile601Thr) c.1847T>C (p.Ile616Thr) n.2182T>C c.1844T>C (p.Ile615Thr) c.1769T>C (p.Ile590Thr) c.1766T>C (p.Ile589Thr) c.1754T>C (p.Ile585Thr) | |
| 11 | g.22262992T>G | CA379922974 | ANO5 | c.1397T>G (p.Ile466Ser) c.1805T>G (p.Ile602Ser) n.2841T>G c.1802T>G (p.Ile601Ser) c.1847T>G (p.Ile616Ser) n.2182T>G c.1844T>G (p.Ile615Ser) c.1769T>G (p.Ile590Ser) c.1766T>G (p.Ile589Ser) c.1754T>G (p.Ile585Ser) | |
| 11 | g.22262993T>A | CA473407336 | ANO5 | c.1398T>A (p.Ile466=) c.1806T>A (p.Ile602=) n.2842T>A c.1803T>A (p.Ile601=) c.1848T>A (p.Ile616=) n.2183T>A c.1845T>A (p.Ile615=) c.1770T>A (p.Ile590=) c.1767T>A (p.Ile589=) c.1755T>A (p.Ile585=) | |
| 11 | g.22262993T>C | CA473407337 | ANO5 | c.1398T>C (p.Ile466=) c.1806T>C (p.Ile602=) n.2842T>C c.1803T>C (p.Ile601=) c.1848T>C (p.Ile616=) n.2183T>C c.1845T>C (p.Ile615=) c.1770T>C (p.Ile590=) c.1767T>C (p.Ile589=) c.1755T>C (p.Ile585=) | |
| 11 | g.22262993T>G | CA379922975 | ANO5 | c.1398T>G (p.Ile466Met) c.1806T>G (p.Ile602Met) n.2842T>G c.1803T>G (p.Ile601Met) c.1848T>G (p.Ile616Met) n.2183T>G c.1845T>G (p.Ile615Met) c.1770T>G (p.Ile590Met) c.1767T>G (p.Ile589Met) c.1755T>G (p.Ile585Met) | |
| 11 | g.22262993T= | CA1957420202 | ANO5 | c.1398T= (p.Ile466=) c.1806T= (p.Ile602=) n.2842T= c.1803T= (p.Ile601=) c.1848T= (p.Ile616=) n.2183T= c.1845T= (p.Ile615=) c.1770T= (p.Ile590=) c.1767T= (p.Ile589=) c.1755T= (p.Ile585=) | |
| 11 | g.22262993_22262994insTTTTGGAAC | CA915947977 | ANO5 | c.1398_1399insTTTTGGAAC (p.Ile466_Ile467insPheTrpAsn) c.1806_1807insTTTTGGAAC (p.Ile602_Ile603insPheTrpAsn) n.2842_2843insTTTTGGAAC c.1803_1804insTTTTGGAAC (p.Ile601_Ile602insPheTrpAsn) c.1848_1849insTTTTGGAAC (p.Ile616_Ile617insPheTrpAsn) n.2183_2184insTTTTGGAAC c.1845_1846insTTTTGGAAC (p.Ile615_Ile616insPheTrpAsn) c.1770_1771insTTTTGGAAC (p.Ile590_Ile591insPheTrpAsn) c.1767_1768insTTTTGGAAC (p.Ile589_Ile590insPheTrpAsn) c.1755_1756insTTTTGGAAC (p.Ile585_Ile586insPheTrpAsn) | ClinVar dbSNP |
| 11 | g.22262994A>C | CA379922976 | ANO5 | c.1399A>C (p.Ile467Leu) c.1807A>C (p.Ile603Leu) n.2843A>C c.1804A>C (p.Ile602Leu) c.1849A>C (p.Ile617Leu) n.2184A>C c.1846A>C (p.Ile616Leu) c.1771A>C (p.Ile591Leu) c.1768A>C (p.Ile590Leu) c.1756A>C (p.Ile586Leu) | |
| 11 | g.22262994A>G | CA379922978 | ANO5 | c.1399A>G (p.Ile467Val) c.1807A>G (p.Ile603Val) n.2843A>G c.1804A>G (p.Ile602Val) c.1849A>G (p.Ile617Val) n.2184A>G c.1846A>G (p.Ile616Val) c.1771A>G (p.Ile591Val) c.1768A>G (p.Ile590Val) c.1756A>G (p.Ile586Val) | |
| 11 | g.22262994A>T | CA379922977 | ANO5 | c.1399A>T (p.Ile467Leu) c.1807A>T (p.Ile603Leu) n.2843A>T c.1804A>T (p.Ile602Leu) c.1849A>T (p.Ile617Leu) n.2184A>T c.1846A>T (p.Ile616Leu) c.1771A>T (p.Ile591Leu) c.1768A>T (p.Ile590Leu) c.1756A>T (p.Ile586Leu) | |
| 11 | g.22262995T>A | CA379922979 | ANO5 | c.1400T>A (p.Ile467Lys) c.1808T>A (p.Ile603Lys) n.2844T>A c.1805T>A (p.Ile602Lys) c.1850T>A (p.Ile617Lys) n.2185T>A c.1847T>A (p.Ile616Lys) c.1772T>A (p.Ile591Lys) c.1769T>A (p.Ile590Lys) c.1757T>A (p.Ile586Lys) | |
| 11 | g.22262995T>C | CA218768701 | ANO5 | c.1400T>C (p.Ile467Thr) c.1808T>C (p.Ile603Thr) n.2844T>C c.1805T>C (p.Ile602Thr) c.1850T>C (p.Ile617Thr) n.2185T>C c.1847T>C (p.Ile616Thr) c.1772T>C (p.Ile591Thr) c.1769T>C (p.Ile590Thr) c.1757T>C (p.Ile586Thr) | dbSNP |
| 11 | g.22262995T>G | CA379922980 | ANO5 | c.1400T>G (p.Ile467Arg) c.1808T>G (p.Ile603Arg) n.2844T>G c.1805T>G (p.Ile602Arg) c.1850T>G (p.Ile617Arg) n.2185T>G c.1847T>G (p.Ile616Arg) c.1772T>G (p.Ile591Arg) c.1769T>G (p.Ile590Arg) c.1757T>G (p.Ile586Arg) | |
| 11 | g.22262995T= | CA1957420203 | ANO5 | c.1400T= (p.Ile467=) c.1808T= (p.Ile603=) n.2844T= c.1805T= (p.Ile602=) c.1850T= (p.Ile617=) n.2185T= c.1847T= (p.Ile616=) c.1772T= (p.Ile591=) c.1769T= (p.Ile590=) c.1757T= (p.Ile586=) | |
| 11 | g.22262996A>C | CA473407338 | ANO5 | c.1401A>C (p.Ile467=) c.1809A>C (p.Ile603=) n.2845A>C c.1806A>C (p.Ile602=) c.1851A>C (p.Ile617=) n.2186A>C c.1848A>C (p.Ile616=) c.1773A>C (p.Ile591=) c.1770A>C (p.Ile590=) c.1758A>C (p.Ile586=) | |
| 11 | g.22262996A>G | CA379922981 | ANO5 | c.1401A>G (p.Ile467Met) c.1809A>G (p.Ile603Met) n.2845A>G c.1806A>G (p.Ile602Met) c.1851A>G (p.Ile617Met) n.2186A>G c.1848A>G (p.Ile616Met) c.1773A>G (p.Ile591Met) c.1770A>G (p.Ile590Met) c.1758A>G (p.Ile586Met) | |
| 11 | g.22262996A>T | CA473407339 | ANO5 | c.1401A>T (p.Ile467=) c.1809A>T (p.Ile603=) n.2845A>T c.1806A>T (p.Ile602=) c.1851A>T (p.Ile617=) n.2186A>T c.1848A>T (p.Ile616=) c.1773A>T (p.Ile591=) c.1770A>T (p.Ile590=) c.1758A>T (p.Ile586=) | COSMIC |
| 11 | g.22262997A>C | CA379922984 | ANO5 | c.1402A>C (p.Met468Leu) c.1810A>C (p.Met604Leu) n.2846A>C c.1807A>C (p.Met603Leu) c.1852A>C (p.Met618Leu) n.2187A>C c.1849A>C (p.Met617Leu) c.1774A>C (p.Met592Leu) c.1771A>C (p.Met591Leu) c.1759A>C (p.Met587Leu) | |
| 11 | g.22262997A>G | CA379922982 | ANO5 | c.1402A>G (p.Met468Val) c.1810A>G (p.Met604Val) n.2846A>G c.1807A>G (p.Met603Val) c.1852A>G (p.Met618Val) n.2187A>G c.1849A>G (p.Met617Val) c.1774A>G (p.Met592Val) c.1771A>G (p.Met591Val) c.1759A>G (p.Met587Val) | gnomAD v4 |
| 11 | g.22262997A>T | CA379922983 | ANO5 | c.1402A>T (p.Met468Leu) c.1810A>T (p.Met604Leu) n.2846A>T c.1807A>T (p.Met603Leu) c.1852A>T (p.Met618Leu) n.2187A>T c.1849A>T (p.Met617Leu) c.1774A>T (p.Met592Leu) c.1771A>T (p.Met591Leu) c.1759A>T (p.Met587Leu) | |
| 11 | g.22262998T>A | CA379922985 | ANO5 | c.1403T>A (p.Met468Lys) c.1811T>A (p.Met604Lys) n.2847T>A c.1808T>A (p.Met603Lys) c.1853T>A (p.Met618Lys) n.2188T>A c.1850T>A (p.Met617Lys) c.1775T>A (p.Met592Lys) c.1772T>A (p.Met591Lys) c.1760T>A (p.Met587Lys) | |
| 11 | g.22262998T>C | CA379922986 | ANO5 | c.1403T>C (p.Met468Thr) c.1811T>C (p.Met604Thr) n.2847T>C c.1808T>C (p.Met603Thr) c.1853T>C (p.Met618Thr) n.2188T>C c.1850T>C (p.Met617Thr) c.1775T>C (p.Met592Thr) c.1772T>C (p.Met591Thr) c.1760T>C (p.Met587Thr) | |
| 11 | g.22262998T>G | CA379922987 | ANO5 | c.1403T>G (p.Met468Arg) c.1811T>G (p.Met604Arg) n.2847T>G c.1808T>G (p.Met603Arg) c.1853T>G (p.Met618Arg) n.2188T>G c.1850T>G (p.Met617Arg) c.1775T>G (p.Met592Arg) c.1772T>G (p.Met591Arg) c.1760T>G (p.Met587Arg) | gnomAD v4 |
| 11 | g.22262999G>A | CA379922988 | ANO5 | c.1404G>A (p.Met468Ile) c.1812G>A (p.Met604Ile) n.2848G>A c.1809G>A (p.Met603Ile) c.1854G>A (p.Met618Ile) n.2189G>A c.1851G>A (p.Met617Ile) c.1776G>A (p.Met592Ile) c.1773G>A (p.Met591Ile) c.1761G>A (p.Met587Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22262999G>C | CA379922989 | ANO5 | c.1404G>C (p.Met468Ile) c.1812G>C (p.Met604Ile) n.2848G>C c.1809G>C (p.Met603Ile) c.1854G>C (p.Met618Ile) n.2189G>C c.1851G>C (p.Met617Ile) c.1776G>C (p.Met592Ile) c.1773G>C (p.Met591Ile) c.1761G>C (p.Met587Ile) | |
| 11 | g.22262999G= | CA1957420204 | ANO5 | c.1404G= (p.Met468=) c.1812G= (p.Met604=) n.2848G= c.1809G= (p.Met603=) c.1854G= (p.Met618=) n.2189G= c.1851G= (p.Met617=) c.1776G= (p.Met592=) c.1773G= (p.Met591=) c.1761G= (p.Met587=) | |
| 11 | g.22262999G>T | CA379922990 | ANO5 | c.1404G>T (p.Met468Ile) c.1812G>T (p.Met604Ile) n.2848G>T c.1809G>T (p.Met603Ile) c.1854G>T (p.Met618Ile) n.2189G>T c.1851G>T (p.Met617Ile) c.1776G>T (p.Met592Ile) c.1773G>T (p.Met591Ile) c.1761G>T (p.Met587Ile) | gnomAD v4 |
| 11 | g.22263000A>C | CA379922991 | ANO5 | c.1405A>C (p.Thr469Pro) c.1813A>C (p.Thr605Pro) n.2849A>C c.1810A>C (p.Thr604Pro) c.1855A>C (p.Thr619Pro) n.2190A>C c.1852A>C (p.Thr618Pro) c.1777A>C (p.Thr593Pro) c.1774A>C (p.Thr592Pro) c.1762A>C (p.Thr588Pro) | |
| 11 | g.22263000A>G | CA379922992 | ANO5 | c.1405A>G (p.Thr469Ala) c.1813A>G (p.Thr605Ala) n.2849A>G c.1810A>G (p.Thr604Ala) c.1855A>G (p.Thr619Ala) n.2190A>G c.1852A>G (p.Thr618Ala) c.1777A>G (p.Thr593Ala) c.1774A>G (p.Thr592Ala) c.1762A>G (p.Thr588Ala) | |
| 11 | g.22263000A>T | CA379922993 | ANO5 | c.1405A>T (p.Thr469Ser) c.1813A>T (p.Thr605Ser) n.2849A>T c.1810A>T (p.Thr604Ser) c.1855A>T (p.Thr619Ser) n.2190A>T c.1852A>T (p.Thr618Ser) c.1777A>T (p.Thr593Ser) c.1774A>T (p.Thr592Ser) c.1762A>T (p.Thr588Ser) | |
| 11 | g.22263001C>A | CA379922994 | ANO5 | c.1406C>A (p.Thr469Asn) c.1814C>A (p.Thr605Asn) n.2850C>A c.1811C>A (p.Thr604Asn) c.1856C>A (p.Thr619Asn) n.2191C>A c.1853C>A (p.Thr618Asn) c.1778C>A (p.Thr593Asn) c.1775C>A (p.Thr592Asn) c.1763C>A (p.Thr588Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22263001C= | CA1957420205 | ANO5 | c.1406C= (p.Thr469=) c.1814C= (p.Thr605=) n.2850C= c.1811C= (p.Thr604=) c.1856C= (p.Thr619=) n.2191C= c.1853C= (p.Thr618=) c.1778C= (p.Thr593=) c.1775C= (p.Thr592=) c.1763C= (p.Thr588=) | |
| 11 | g.22263001C>G | CA379922995 | ANO5 | c.1406C>G (p.Thr469Ser) c.1814C>G (p.Thr605Ser) n.2850C>G c.1811C>G (p.Thr604Ser) c.1856C>G (p.Thr619Ser) n.2191C>G c.1853C>G (p.Thr618Ser) c.1778C>G (p.Thr593Ser) c.1775C>G (p.Thr592Ser) c.1763C>G (p.Thr588Ser) | |
| 11 | g.22263001C>T | CA379922996 | ANO5 | c.1406C>T (p.Thr469Ile) c.1814C>T (p.Thr605Ile) n.2850C>T c.1811C>T (p.Thr604Ile) c.1856C>T (p.Thr619Ile) n.2191C>T c.1853C>T (p.Thr618Ile) c.1778C>T (p.Thr593Ile) c.1775C>T (p.Thr592Ile) c.1763C>T (p.Thr588Ile) | dbSNP gnomAD v4 |
| 11 | g.22263002C>A | CA473407340 | ANO5 | c.1407C>A (p.Thr469=) c.1815C>A (p.Thr605=) n.2851C>A c.1812C>A (p.Thr604=) c.1857C>A (p.Thr619=) n.2192C>A c.1854C>A (p.Thr618=) c.1779C>A (p.Thr593=) c.1776C>A (p.Thr592=) c.1764C>A (p.Thr588=) | gnomAD v4 |
| 11 | g.22263002C= | CA1957420206 | ANO5 | c.1407C= (p.Thr469=) c.1815C= (p.Thr605=) n.2851C= c.1812C= (p.Thr604=) c.1857C= (p.Thr619=) n.2192C= c.1854C= (p.Thr618=) c.1779C= (p.Thr593=) c.1776C= (p.Thr592=) c.1764C= (p.Thr588=) | |
| 11 | g.22263002C>G | CA473407341 | ANO5 | c.1407C>G (p.Thr469=) c.1815C>G (p.Thr605=) n.2851C>G c.1812C>G (p.Thr604=) c.1857C>G (p.Thr619=) n.2192C>G c.1854C>G (p.Thr618=) c.1779C>G (p.Thr593=) c.1776C>G (p.Thr592=) c.1764C>G (p.Thr588=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22263002C>T | CA5923374 | ANO5 | c.1407C>T (p.Thr469=) c.1815C>T (p.Thr605=) n.2851C>T c.1812C>T (p.Thr604=) c.1857C>T (p.Thr619=) n.2192C>T c.1854C>T (p.Thr618=) c.1779C>T (p.Thr593=) c.1776C>T (p.Thr592=) c.1764C>T (p.Thr588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263003G>A | CA379922997 | ANO5 | c.1408G>A (p.Gly470Arg) c.1816G>A (p.Gly606Arg) n.2852G>A c.1813G>A (p.Gly605Arg) c.1858G>A (p.Gly620Arg) n.2193G>A c.1855G>A (p.Gly619Arg) c.1780G>A (p.Gly594Arg) c.1777G>A (p.Gly593Arg) c.1765G>A (p.Gly589Arg) | COSMIC |
| 11 | g.22263003G>C | CA379922999 | ANO5 | c.1408G>C (p.Gly470Arg) c.1816G>C (p.Gly606Arg) n.2852G>C c.1813G>C (p.Gly605Arg) c.1858G>C (p.Gly620Arg) n.2193G>C c.1855G>C (p.Gly619Arg) c.1780G>C (p.Gly594Arg) c.1777G>C (p.Gly593Arg) c.1765G>C (p.Gly589Arg) | |
| 11 | g.22263003G>T | CA379922998 | ANO5 | c.1408G>T (p.Gly470Trp) c.1816G>T (p.Gly606Trp) n.2852G>T c.1813G>T (p.Gly605Trp) c.1858G>T (p.Gly620Trp) n.2193G>T c.1855G>T (p.Gly619Trp) c.1780G>T (p.Gly594Trp) c.1777G>T (p.Gly593Trp) c.1765G>T (p.Gly589Trp) | |
| 11 | g.22263004G>A | CA379923000 | ANO5 | c.1409G>A (p.Gly470Glu) c.1817G>A (p.Gly606Glu) n.2853G>A c.1814G>A (p.Gly605Glu) c.1859G>A (p.Gly620Glu) n.2194G>A c.1856G>A (p.Gly619Glu) c.1781G>A (p.Gly594Glu) c.1778G>A (p.Gly593Glu) c.1766G>A (p.Gly589Glu) | |
| 11 | g.22263004G>C | CA379923001 | ANO5 | c.1409G>C (p.Gly470Ala) c.1817G>C (p.Gly606Ala) n.2853G>C c.1814G>C (p.Gly605Ala) c.1859G>C (p.Gly620Ala) n.2194G>C c.1856G>C (p.Gly619Ala) c.1781G>C (p.Gly594Ala) c.1778G>C (p.Gly593Ala) c.1766G>C (p.Gly589Ala) | |
| 11 | g.22263004G>T | CA379923002 | ANO5 | c.1409G>T (p.Gly470Val) c.1817G>T (p.Gly606Val) n.2853G>T c.1814G>T (p.Gly605Val) c.1859G>T (p.Gly620Val) n.2194G>T c.1856G>T (p.Gly619Val) c.1781G>T (p.Gly594Val) c.1778G>T (p.Gly593Val) c.1766G>T (p.Gly589Val) | |
| 11 | g.22263005G>A | CA10604639 | ANO5 | c.1410G>A (p.Gly470=) c.1818G>A (p.Gly606=) n.2854G>A c.1815G>A (p.Gly605=) c.1860G>A (p.Gly620=) n.2195G>A c.1857G>A (p.Gly619=) c.1782G>A (p.Gly594=) c.1779G>A (p.Gly593=) c.1767G>A (p.Gly589=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22263005G>C | CA473407343 | ANO5 | c.1410G>C (p.Gly470=) c.1818G>C (p.Gly606=) n.2854G>C c.1815G>C (p.Gly605=) c.1860G>C (p.Gly620=) n.2195G>C c.1857G>C (p.Gly619=) c.1782G>C (p.Gly594=) c.1779G>C (p.Gly593=) c.1767G>C (p.Gly589=) | |
| 11 | g.22263005G= | CA1957420207 | ANO5 | c.1410G= (p.Gly470=) c.1818G= (p.Gly606=) n.2854G= c.1815G= (p.Gly605=) c.1860G= (p.Gly620=) n.2195G= c.1857G= (p.Gly619=) c.1782G= (p.Gly594=) c.1779G= (p.Gly593=) c.1767G= (p.Gly589=) | |
| 11 | g.22263005G>T | CA473407342 | ANO5 | c.1410G>T (p.Gly470=) c.1818G>T (p.Gly606=) n.2854G>T c.1815G>T (p.Gly605=) c.1860G>T (p.Gly620=) n.2195G>T c.1857G>T (p.Gly619=) c.1782G>T (p.Gly594=) c.1779G>T (p.Gly593=) c.1767G>T (p.Gly589=) | |
| 11 | g.22263006A>C | CA379923003 | ANO5 | c.1411A>C (p.Lys471Gln) c.1819A>C (p.Lys607Gln) n.2855A>C c.1816A>C (p.Lys606Gln) c.1861A>C (p.Lys621Gln) n.2196A>C c.1858A>C (p.Lys620Gln) c.1783A>C (p.Lys595Gln) c.1780A>C (p.Lys594Gln) c.1768A>C (p.Lys590Gln) | |
| 11 | g.22263006A>G | CA379923004 | ANO5 | c.1411A>G (p.Lys471Glu) c.1819A>G (p.Lys607Glu) n.2855A>G c.1816A>G (p.Lys606Glu) c.1861A>G (p.Lys621Glu) n.2196A>G c.1858A>G (p.Lys620Glu) c.1783A>G (p.Lys595Glu) c.1780A>G (p.Lys594Glu) c.1768A>G (p.Lys590Glu) | |
| 11 | g.22263006A>T | CA379923005 | ANO5 | c.1411A>T (p.Lys471Ter) c.1819A>T (p.Lys607Ter) n.2855A>T c.1816A>T (p.Lys606Ter) c.1861A>T (p.Lys621Ter) n.2196A>T c.1858A>T (p.Lys620Ter) c.1783A>T (p.Lys595Ter) c.1780A>T (p.Lys594Ter) c.1768A>T (p.Lys590Ter) | |
| 11 | g.22263007A>C | CA379923006 | ANO5 | c.1412A>C (p.Lys471Thr) c.1820A>C (p.Lys607Thr) n.2856A>C c.1817A>C (p.Lys606Thr) c.1862A>C (p.Lys621Thr) n.2197A>C c.1859A>C (p.Lys620Thr) c.1784A>C (p.Lys595Thr) c.1781A>C (p.Lys594Thr) c.1769A>C (p.Lys590Thr) | |
| 11 | g.22263007A>G | CA379923007 | ANO5 | c.1412A>G (p.Lys471Arg) c.1820A>G (p.Lys607Arg) n.2856A>G c.1817A>G (p.Lys606Arg) c.1862A>G (p.Lys621Arg) n.2197A>G c.1859A>G (p.Lys620Arg) c.1784A>G (p.Lys595Arg) c.1781A>G (p.Lys594Arg) c.1769A>G (p.Lys590Arg) | gnomAD v4 |
| 11 | g.22263007A>T | CA379923008 | ANO5 | c.1412A>T (p.Lys471Ile) c.1820A>T (p.Lys607Ile) n.2856A>T c.1817A>T (p.Lys606Ile) c.1862A>T (p.Lys621Ile) n.2197A>T c.1859A>T (p.Lys620Ile) c.1784A>T (p.Lys595Ile) c.1781A>T (p.Lys594Ile) c.1769A>T (p.Lys590Ile) | |
| 11 | g.22263008A>C | CA379923009 | ANO5 | c.1413A>C (p.Lys471Asn) c.1821A>C (p.Lys607Asn) n.2857A>C c.1818A>C (p.Lys606Asn) c.1863A>C (p.Lys621Asn) n.2198A>C c.1860A>C (p.Lys620Asn) c.1785A>C (p.Lys595Asn) c.1782A>C (p.Lys594Asn) c.1770A>C (p.Lys590Asn) | |
| 11 | g.22263008A>G | CA473407344 | ANO5 | c.1413A>G (p.Lys471=) c.1821A>G (p.Lys607=) n.2857A>G c.1818A>G (p.Lys606=) c.1863A>G (p.Lys621=) n.2198A>G c.1860A>G (p.Lys620=) c.1785A>G (p.Lys595=) c.1782A>G (p.Lys594=) c.1770A>G (p.Lys590=) | gnomAD v4 |
| 11 | g.22263008A>T | CA379923010 | ANO5 | c.1413A>T (p.Lys471Asn) c.1821A>T (p.Lys607Asn) n.2857A>T c.1818A>T (p.Lys606Asn) c.1863A>T (p.Lys621Asn) n.2198A>T c.1860A>T (p.Lys620Asn) c.1785A>T (p.Lys595Asn) c.1782A>T (p.Lys594Asn) c.1770A>T (p.Lys590Asn) | |
| 11 | g.22263009C>A | CA379923013 | ANO5 | c.1414C>A (p.Gln472Lys) c.1822C>A (p.Gln608Lys) n.2858C>A c.1819C>A (p.Gln607Lys) c.1864C>A (p.Gln622Lys) n.2199C>A c.1861C>A (p.Gln621Lys) c.1786C>A (p.Gln596Lys) c.1783C>A (p.Gln595Lys) c.1771C>A (p.Gln591Lys) | |
| 11 | g.22263009C>G | CA379923011 | ANO5 | c.1414C>G (p.Gln472Glu) c.1822C>G (p.Gln608Glu) n.2858C>G c.1819C>G (p.Gln607Glu) c.1864C>G (p.Gln622Glu) n.2199C>G c.1861C>G (p.Gln621Glu) c.1786C>G (p.Gln596Glu) c.1783C>G (p.Gln595Glu) c.1771C>G (p.Gln591Glu) | |
| 11 | g.22263009C>T | CA379923012 | ANO5 | c.1414C>T (p.Gln472Ter) c.1822C>T (p.Gln608Ter) n.2858C>T c.1819C>T (p.Gln607Ter) c.1864C>T (p.Gln622Ter) n.2199C>T c.1861C>T (p.Gln621Ter) c.1786C>T (p.Gln596Ter) c.1783C>T (p.Gln595Ter) c.1771C>T (p.Gln591Ter) | |
| 11 | g.22263010A>C | CA379923014 | ANO5 | c.1415A>C (p.Gln472Pro) c.1823A>C (p.Gln608Pro) n.2859A>C c.1820A>C (p.Gln607Pro) c.1865A>C (p.Gln622Pro) n.2200A>C c.1862A>C (p.Gln621Pro) c.1787A>C (p.Gln596Pro) c.1784A>C (p.Gln595Pro) c.1772A>C (p.Gln591Pro) | |
| 11 | g.22263010A>G | CA379923015 | ANO5 | c.1415A>G (p.Gln472Arg) c.1823A>G (p.Gln608Arg) n.2859A>G c.1820A>G (p.Gln607Arg) c.1865A>G (p.Gln622Arg) n.2200A>G c.1862A>G (p.Gln621Arg) c.1787A>G (p.Gln596Arg) c.1784A>G (p.Gln595Arg) c.1772A>G (p.Gln591Arg) | |
| 11 | g.22263010A>T | CA379923016 | ANO5 | c.1415A>T (p.Gln472Leu) c.1823A>T (p.Gln608Leu) n.2859A>T c.1820A>T (p.Gln607Leu) c.1865A>T (p.Gln622Leu) n.2200A>T c.1862A>T (p.Gln621Leu) c.1787A>T (p.Gln596Leu) c.1784A>T (p.Gln595Leu) c.1772A>T (p.Gln591Leu) | |
| 11 | g.22263011G>A | CA473407345 | ANO5 | c.1416G>A (p.Gln472=) c.1824G>A (p.Gln608=) n.2860G>A c.1821G>A (p.Gln607=) c.1866G>A (p.Gln622=) n.2201G>A c.1863G>A (p.Gln621=) c.1788G>A (p.Gln596=) c.1785G>A (p.Gln595=) c.1773G>A (p.Gln591=) | COSMIC |
| 11 | g.22263011G>C | CA379923017 | ANO5 | c.1416G>C (p.Gln472His) c.1824G>C (p.Gln608His) n.2860G>C c.1821G>C (p.Gln607His) c.1866G>C (p.Gln622His) n.2201G>C c.1863G>C (p.Gln621His) c.1788G>C (p.Gln596His) c.1785G>C (p.Gln595His) c.1773G>C (p.Gln591His) | |
| 11 | g.22263011G>T | CA379923018 | ANO5 | c.1416G>T (p.Gln472His) c.1824G>T (p.Gln608His) n.2860G>T c.1821G>T (p.Gln607His) c.1866G>T (p.Gln622His) n.2201G>T c.1863G>T (p.Gln621His) c.1788G>T (p.Gln596His) c.1785G>T (p.Gln595His) c.1773G>T (p.Gln591His) | |
| 11 | g.22263012A>C | CA379923019 | ANO5 | c.1417A>C (p.Ile473Leu) c.1825A>C (p.Ile609Leu) n.2861A>C c.1822A>C (p.Ile608Leu) c.1867A>C (p.Ile623Leu) n.2202A>C c.1864A>C (p.Ile622Leu) c.1789A>C (p.Ile597Leu) c.1786A>C (p.Ile596Leu) c.1774A>C (p.Ile592Leu) | |
| 11 | g.22263012A>G | CA379923020 | ANO5 | c.1417A>G (p.Ile473Val) c.1825A>G (p.Ile609Val) n.2861A>G c.1822A>G (p.Ile608Val) c.1867A>G (p.Ile623Val) n.2202A>G c.1864A>G (p.Ile622Val) c.1789A>G (p.Ile597Val) c.1786A>G (p.Ile596Val) c.1774A>G (p.Ile592Val) | |
| 11 | g.22263012A>T | CA379923021 | ANO5 | c.1417A>T (p.Ile473Phe) c.1825A>T (p.Ile609Phe) n.2861A>T c.1822A>T (p.Ile608Phe) c.1867A>T (p.Ile623Phe) n.2202A>T c.1864A>T (p.Ile622Phe) c.1789A>T (p.Ile597Phe) c.1786A>T (p.Ile596Phe) c.1774A>T (p.Ile592Phe) | |
| 11 | g.22263013T>A | CA379923022 | ANO5 | c.1418T>A (p.Ile473Asn) c.1826T>A (p.Ile609Asn) n.2862T>A c.1823T>A (p.Ile608Asn) c.1868T>A (p.Ile623Asn) n.2203T>A c.1865T>A (p.Ile622Asn) c.1790T>A (p.Ile597Asn) c.1787T>A (p.Ile596Asn) c.1775T>A (p.Ile592Asn) | |
| 11 | g.22263013T>C | CA379923023 | ANO5 | c.1418T>C (p.Ile473Thr) c.1826T>C (p.Ile609Thr) n.2862T>C c.1823T>C (p.Ile608Thr) c.1868T>C (p.Ile623Thr) n.2203T>C c.1865T>C (p.Ile622Thr) c.1790T>C (p.Ile597Thr) c.1787T>C (p.Ile596Thr) c.1775T>C (p.Ile592Thr) | |
| 11 | g.22263013T>G | CA379923024 | ANO5 | c.1418T>G (p.Ile473Ser) c.1826T>G (p.Ile609Ser) n.2862T>G c.1823T>G (p.Ile608Ser) c.1868T>G (p.Ile623Ser) n.2203T>G c.1865T>G (p.Ile622Ser) c.1790T>G (p.Ile597Ser) c.1787T>G (p.Ile596Ser) c.1775T>G (p.Ile592Ser) | |
| 11 | g.22263014T>A | CA473407346 | ANO5 | c.1419T>A (p.Ile473=) c.1827T>A (p.Ile609=) n.2863T>A c.1824T>A (p.Ile608=) c.1869T>A (p.Ile623=) n.2204T>A c.1866T>A (p.Ile622=) c.1791T>A (p.Ile597=) c.1788T>A (p.Ile596=) c.1776T>A (p.Ile592=) | dbSNP gnomAD v2 |
| 11 | g.22263014T>C | CA473407347 | ANO5 | c.1419T>C (p.Ile473=) c.1827T>C (p.Ile609=) n.2863T>C c.1824T>C (p.Ile608=) c.1869T>C (p.Ile623=) n.2204T>C c.1866T>C (p.Ile622=) c.1791T>C (p.Ile597=) c.1788T>C (p.Ile596=) c.1776T>C (p.Ile592=) | |
| 11 | g.22263014T>G | CA379923025 | ANO5 | c.1419T>G (p.Ile473Met) c.1827T>G (p.Ile609Met) n.2863T>G c.1824T>G (p.Ile608Met) c.1869T>G (p.Ile623Met) n.2204T>G c.1866T>G (p.Ile622Met) c.1791T>G (p.Ile597Met) c.1788T>G (p.Ile596Met) c.1776T>G (p.Ile592Met) | |
| 11 | g.22263014T= | CA1957420208 | ANO5 | c.1419T= (p.Ile473=) c.1827T= (p.Ile609=) n.2863T= c.1824T= (p.Ile608=) c.1869T= (p.Ile623=) n.2204T= c.1866T= (p.Ile622=) c.1791T= (p.Ile597=) c.1788T= (p.Ile596=) c.1776T= (p.Ile592=) | |
| 11 | g.22263015T>A | CA379923027 | ANO5 | c.1420T>A (p.Phe474Ile) c.1828T>A (p.Phe610Ile) n.2864T>A c.1825T>A (p.Phe609Ile) c.1870T>A (p.Phe624Ile) n.2205T>A c.1867T>A (p.Phe623Ile) c.1792T>A (p.Phe598Ile) c.1789T>A (p.Phe597Ile) c.1777T>A (p.Phe593Ile) | |
| 11 | g.22263015T>C | CA379923028 | ANO5 | c.1420T>C (p.Phe474Leu) c.1828T>C (p.Phe610Leu) n.2864T>C c.1825T>C (p.Phe609Leu) c.1870T>C (p.Phe624Leu) n.2205T>C c.1867T>C (p.Phe623Leu) c.1792T>C (p.Phe598Leu) c.1789T>C (p.Phe597Leu) c.1777T>C (p.Phe593Leu) | |
| 11 | g.22263015T>G | CA379923026 | ANO5 | c.1420T>G (p.Phe474Val) c.1828T>G (p.Phe610Val) n.2864T>G c.1825T>G (p.Phe609Val) c.1870T>G (p.Phe624Val) n.2205T>G c.1867T>G (p.Phe623Val) c.1792T>G (p.Phe598Val) c.1789T>G (p.Phe597Val) c.1777T>G (p.Phe593Val) | |
| 11 | g.22263016T>A | CA379923029 | ANO5 | c.1421T>A (p.Phe474Tyr) c.1829T>A (p.Phe610Tyr) n.2865T>A c.1826T>A (p.Phe609Tyr) c.1871T>A (p.Phe624Tyr) n.2206T>A c.1868T>A (p.Phe623Tyr) c.1793T>A (p.Phe598Tyr) c.1790T>A (p.Phe597Tyr) c.1778T>A (p.Phe593Tyr) | |
| 11 | g.22263016T>C | CA379923031 | ANO5 | c.1421T>C (p.Phe474Ser) c.1829T>C (p.Phe610Ser) n.2865T>C c.1826T>C (p.Phe609Ser) c.1871T>C (p.Phe624Ser) n.2206T>C c.1868T>C (p.Phe623Ser) c.1793T>C (p.Phe598Ser) c.1790T>C (p.Phe597Ser) c.1778T>C (p.Phe593Ser) | dbSNP gnomAD v4 |
| 11 | g.22263016T>G | CA379923030 | ANO5 | c.1421T>G (p.Phe474Cys) c.1829T>G (p.Phe610Cys) n.2865T>G c.1826T>G (p.Phe609Cys) c.1871T>G (p.Phe624Cys) n.2206T>G c.1868T>G (p.Phe623Cys) c.1793T>G (p.Phe598Cys) c.1790T>G (p.Phe597Cys) c.1778T>G (p.Phe593Cys) | |
| 11 | g.22263016T= | CA1957420209 | ANO5 | c.1421T= (p.Phe474=) c.1829T= (p.Phe610=) n.2865T= c.1826T= (p.Phe609=) c.1871T= (p.Phe624=) n.2206T= c.1868T= (p.Phe623=) c.1793T= (p.Phe598=) c.1790T= (p.Phe597=) c.1778T= (p.Phe593=) | |
| 11 | g.22263017T>A | CA379923032 | ANO5 | c.1422T>A (p.Phe474Leu) c.1830T>A (p.Phe610Leu) n.2866T>A c.1827T>A (p.Phe609Leu) c.1872T>A (p.Phe624Leu) n.2207T>A c.1869T>A (p.Phe623Leu) c.1794T>A (p.Phe598Leu) c.1791T>A (p.Phe597Leu) c.1779T>A (p.Phe593Leu) | gnomAD v4 |
| 11 | g.22263017T>C | CA5923375 | ANO5 | c.1422T>C (p.Phe474=) c.1830T>C (p.Phe610=) n.2866T>C c.1827T>C (p.Phe609=) c.1872T>C (p.Phe624=) n.2207T>C c.1869T>C (p.Phe623=) c.1794T>C (p.Phe598=) c.1791T>C (p.Phe597=) c.1779T>C (p.Phe593=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263017T>G | CA379923033 | ANO5 | c.1422T>G (p.Phe474Leu) c.1830T>G (p.Phe610Leu) n.2866T>G c.1827T>G (p.Phe609Leu) c.1872T>G (p.Phe624Leu) n.2207T>G c.1869T>G (p.Phe623Leu) c.1794T>G (p.Phe598Leu) c.1791T>G (p.Phe597Leu) c.1779T>G (p.Phe593Leu) | |
| 11 | g.22263017T= | CA1957420210 | ANO5 | c.1422T= (p.Phe474=) c.1830T= (p.Phe610=) n.2866T= c.1827T= (p.Phe609=) c.1872T= (p.Phe624=) n.2207T= c.1869T= (p.Phe623=) c.1794T= (p.Phe598=) c.1791T= (p.Phe597=) c.1779T= (p.Phe593=) | |
| 11 | g.22263018G>A | CA379923034 | ANO5 | c.1423G>A (p.Gly475Arg) c.1831G>A (p.Gly611Arg) n.2867G>A c.1828G>A (p.Gly610Arg) c.1873G>A (p.Gly625Arg) n.2208G>A c.1870G>A (p.Gly624Arg) c.1795G>A (p.Gly599Arg) c.1792G>A (p.Gly598Arg) c.1780G>A (p.Gly594Arg) | |
| 11 | g.22263018G>C | CA379923036 | ANO5 | c.1423G>C (p.Gly475Arg) c.1831G>C (p.Gly611Arg) n.2867G>C c.1828G>C (p.Gly610Arg) c.1873G>C (p.Gly625Arg) n.2208G>C c.1870G>C (p.Gly624Arg) c.1795G>C (p.Gly599Arg) c.1792G>C (p.Gly598Arg) c.1780G>C (p.Gly594Arg) | gnomAD v4 |
| 11 | g.22263018G>T | CA379923035 | ANO5 | c.1423G>T (p.Gly475Ter) c.1831G>T (p.Gly611Ter) n.2867G>T c.1828G>T (p.Gly610Ter) c.1873G>T (p.Gly625Ter) n.2208G>T c.1870G>T (p.Gly624Ter) c.1795G>T (p.Gly599Ter) c.1792G>T (p.Gly598Ter) c.1780G>T (p.Gly594Ter) | ClinVar gnomAD v4 |
| 11 | g.22263019G>A | CA379923037 | ANO5 | c.1424G>A (p.Gly475Glu) c.1832G>A (p.Gly611Glu) n.2868G>A c.1829G>A (p.Gly610Glu) c.1874G>A (p.Gly625Glu) n.2209G>A c.1871G>A (p.Gly624Glu) c.1796G>A (p.Gly599Glu) c.1793G>A (p.Gly598Glu) c.1781G>A (p.Gly594Glu) | gnomAD v4 |
| 11 | g.22263019G>C | CA379923039 | ANO5 | c.1424G>C (p.Gly475Ala) c.1832G>C (p.Gly611Ala) n.2868G>C c.1829G>C (p.Gly610Ala) c.1874G>C (p.Gly625Ala) n.2209G>C c.1871G>C (p.Gly624Ala) c.1796G>C (p.Gly599Ala) c.1793G>C (p.Gly598Ala) c.1781G>C (p.Gly594Ala) | |
| 11 | g.22263019G>T | CA379923038 | ANO5 | c.1424G>T (p.Gly475Val) c.1832G>T (p.Gly611Val) n.2868G>T c.1829G>T (p.Gly610Val) c.1874G>T (p.Gly625Val) n.2209G>T c.1871G>T (p.Gly624Val) c.1796G>T (p.Gly599Val) c.1793G>T (p.Gly598Val) c.1781G>T (p.Gly594Val) | |
| 11 | g.22263020A>C | CA473407348 | ANO5 | c.1425A>C (p.Gly475=) c.1833A>C (p.Gly611=) n.2869A>C c.1830A>C (p.Gly610=) c.1875A>C (p.Gly625=) n.2210A>C c.1872A>C (p.Gly624=) c.1797A>C (p.Gly599=) c.1794A>C (p.Gly598=) c.1782A>C (p.Gly594=) | |
| 11 | g.22263020A>G | CA473407349 | ANO5 | c.1425A>G (p.Gly475=) c.1833A>G (p.Gly611=) n.2869A>G c.1830A>G (p.Gly610=) c.1875A>G (p.Gly625=) n.2210A>G c.1872A>G (p.Gly624=) c.1797A>G (p.Gly599=) c.1794A>G (p.Gly598=) c.1782A>G (p.Gly594=) | gnomAD v4 |
| 11 | g.22263020A>T | CA473407350 | ANO5 | c.1425A>T (p.Gly475=) c.1833A>T (p.Gly611=) n.2869A>T c.1830A>T (p.Gly610=) c.1875A>T (p.Gly625=) n.2210A>T c.1872A>T (p.Gly624=) c.1797A>T (p.Gly599=) c.1794A>T (p.Gly598=) c.1782A>T (p.Gly594=) | |
| 11 | g.22263021A>C | CA379923040 | ANO5 | c.1426A>C (p.Asn476His) c.1834A>C (p.Asn612His) n.2870A>C c.1831A>C (p.Asn611His) c.1876A>C (p.Asn626His) n.2211A>C c.1873A>C (p.Asn625His) c.1798A>C (p.Asn600His) c.1795A>C (p.Asn599His) c.1783A>C (p.Asn595His) | |
| 11 | g.22263021A>G | CA379923041 | ANO5 | c.1426A>G (p.Asn476Asp) c.1834A>G (p.Asn612Asp) n.2870A>G c.1831A>G (p.Asn611Asp) c.1876A>G (p.Asn626Asp) n.2211A>G c.1873A>G (p.Asn625Asp) c.1798A>G (p.Asn600Asp) c.1795A>G (p.Asn599Asp) c.1783A>G (p.Asn595Asp) | |
| 11 | g.22263021A>T | CA379923042 | ANO5 | c.1426A>T (p.Asn476Tyr) c.1834A>T (p.Asn612Tyr) n.2870A>T c.1831A>T (p.Asn611Tyr) c.1876A>T (p.Asn626Tyr) n.2211A>T c.1873A>T (p.Asn625Tyr) c.1798A>T (p.Asn600Tyr) c.1795A>T (p.Asn599Tyr) c.1783A>T (p.Asn595Tyr) | |
| 11 | g.22263022A>C | CA379923043 | ANO5 | c.1427A>C (p.Asn476Thr) c.1835A>C (p.Asn612Thr) n.2871A>C c.1832A>C (p.Asn611Thr) c.1877A>C (p.Asn626Thr) n.2212A>C c.1874A>C (p.Asn625Thr) c.1799A>C (p.Asn600Thr) c.1796A>C (p.Asn599Thr) c.1784A>C (p.Asn595Thr) | |
| 11 | g.22263022A>G | CA379923044 | ANO5 | c.1427A>G (p.Asn476Ser) c.1835A>G (p.Asn612Ser) n.2871A>G c.1832A>G (p.Asn611Ser) c.1877A>G (p.Asn626Ser) n.2212A>G c.1874A>G (p.Asn625Ser) c.1799A>G (p.Asn600Ser) c.1796A>G (p.Asn599Ser) c.1784A>G (p.Asn595Ser) | gnomAD v4 |
| 11 | g.22263022A>T | CA379923045 | ANO5 | c.1427A>T (p.Asn476Ile) c.1835A>T (p.Asn612Ile) n.2871A>T c.1832A>T (p.Asn611Ile) c.1877A>T (p.Asn626Ile) n.2212A>T c.1874A>T (p.Asn625Ile) c.1799A>T (p.Asn600Ile) c.1796A>T (p.Asn599Ile) c.1784A>T (p.Asn595Ile) | |
| 11 | g.22263023C>A | CA379923046 | ANO5 | c.1428C>A (p.Asn476Lys) c.1836C>A (p.Asn612Lys) n.2872C>A c.1833C>A (p.Asn611Lys) c.1878C>A (p.Asn626Lys) n.2213C>A c.1875C>A (p.Asn625Lys) c.1800C>A (p.Asn600Lys) c.1797C>A (p.Asn599Lys) c.1785C>A (p.Asn595Lys) | |
| 11 | g.22263023C>G | CA379923047 | ANO5 | c.1428C>G (p.Asn476Lys) c.1836C>G (p.Asn612Lys) n.2872C>G c.1833C>G (p.Asn611Lys) c.1878C>G (p.Asn626Lys) n.2213C>G c.1875C>G (p.Asn625Lys) c.1800C>G (p.Asn600Lys) c.1797C>G (p.Asn599Lys) c.1785C>G (p.Asn595Lys) | |
| 11 | g.22263023C>T | CA473407351 | ANO5 | c.1428C>T (p.Asn476=) c.1836C>T (p.Asn612=) n.2872C>T c.1833C>T (p.Asn611=) c.1878C>T (p.Asn626=) n.2213C>T c.1875C>T (p.Asn625=) c.1800C>T (p.Asn600=) c.1797C>T (p.Asn599=) c.1785C>T (p.Asn595=) | |
| 11 | g.22263024A>C | CA379923048 | ANO5 | c.1429A>C (p.Ile477Leu) c.1837A>C (p.Ile613Leu) n.2873A>C c.1834A>C (p.Ile612Leu) c.1879A>C (p.Ile627Leu) n.2214A>C c.1876A>C (p.Ile626Leu) c.1801A>C (p.Ile601Leu) c.1798A>C (p.Ile600Leu) c.1786A>C (p.Ile596Leu) | |
| 11 | g.22263024A>G | CA379923049 | ANO5 | c.1429A>G (p.Ile477Val) c.1837A>G (p.Ile613Val) n.2873A>G c.1834A>G (p.Ile612Val) c.1879A>G (p.Ile627Val) n.2214A>G c.1876A>G (p.Ile626Val) c.1801A>G (p.Ile601Val) c.1798A>G (p.Ile600Val) c.1786A>G (p.Ile596Val) | |
| 11 | g.22263024A>T | CA379923050 | ANO5 | c.1429A>T (p.Ile477Phe) c.1837A>T (p.Ile613Phe) n.2873A>T c.1834A>T (p.Ile612Phe) c.1879A>T (p.Ile627Phe) n.2214A>T c.1876A>T (p.Ile626Phe) c.1801A>T (p.Ile601Phe) c.1798A>T (p.Ile600Phe) c.1786A>T (p.Ile596Phe) | gnomAD v4 |
| 11 | g.22263024_22263025del | CA2695213373 | ANO5 | c.1429_1430del (p.Ile477Ter) c.1837_1838del (p.Ile613Ter) n.2873_2874del c.1834_1835del (p.Ile612Ter) c.1879_1880del (p.Ile627Ter) n.2214_2215del c.1876_1877del (p.Ile626Ter) c.1801_1802del (p.Ile601Ter) c.1798_1799del (p.Ile600Ter) c.1786_1787del (p.Ile596Ter) | |
| 11 | g.22263025T>A | CA379923052 | ANO5 | c.1430T>A (p.Ile477Asn) c.1838T>A (p.Ile613Asn) n.2874T>A c.1835T>A (p.Ile612Asn) c.1880T>A (p.Ile627Asn) n.2215T>A c.1877T>A (p.Ile626Asn) c.1802T>A (p.Ile601Asn) c.1799T>A (p.Ile600Asn) c.1787T>A (p.Ile596Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22263025T>C | CA5923376 | ANO5 | c.1430T>C (p.Ile477Thr) c.1838T>C (p.Ile613Thr) n.2874T>C c.1835T>C (p.Ile612Thr) c.1880T>C (p.Ile627Thr) n.2215T>C c.1877T>C (p.Ile626Thr) c.1802T>C (p.Ile601Thr) c.1799T>C (p.Ile600Thr) c.1787T>C (p.Ile596Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263025T>G | CA379923051 | ANO5 | c.1430T>G (p.Ile477Ser) c.1838T>G (p.Ile613Ser) n.2874T>G c.1835T>G (p.Ile612Ser) c.1880T>G (p.Ile627Ser) n.2215T>G c.1877T>G (p.Ile626Ser) c.1802T>G (p.Ile601Ser) c.1799T>G (p.Ile600Ser) c.1787T>G (p.Ile596Ser) | |
| 11 | g.22263025T= | CA1957420211 | ANO5 | c.1430T= (p.Ile477=) c.1838T= (p.Ile613=) n.2874T= c.1835T= (p.Ile612=) c.1880T= (p.Ile627=) n.2215T= c.1877T= (p.Ile626=) c.1802T= (p.Ile601=) c.1799T= (p.Ile600=) c.1787T= (p.Ile596=) | |
| 11 | g.22263026T>A | CA473407352 | ANO5 | c.1431T>A (p.Ile477=) c.1839T>A (p.Ile613=) n.2875T>A c.1836T>A (p.Ile612=) c.1881T>A (p.Ile627=) n.2216T>A c.1878T>A (p.Ile626=) c.1803T>A (p.Ile601=) c.1800T>A (p.Ile600=) c.1788T>A (p.Ile596=) | dbSNP |
| 11 | g.22263026T>C | CA473407353 | ANO5 | c.1431T>C (p.Ile477=) c.1839T>C (p.Ile613=) n.2875T>C c.1836T>C (p.Ile612=) c.1881T>C (p.Ile627=) n.2216T>C c.1878T>C (p.Ile626=) c.1803T>C (p.Ile601=) c.1800T>C (p.Ile600=) c.1788T>C (p.Ile596=) | |
| 11 | g.22263026T>G | CA379923053 | ANO5 | c.1431T>G (p.Ile477Met) c.1839T>G (p.Ile613Met) n.2875T>G c.1836T>G (p.Ile612Met) c.1881T>G (p.Ile627Met) n.2216T>G c.1878T>G (p.Ile626Met) c.1803T>G (p.Ile601Met) c.1800T>G (p.Ile600Met) c.1788T>G (p.Ile596Met) | |
| 11 | g.22263026T= | CA1957420213 | ANO5 | c.1431T= (p.Ile477=) c.1839T= (p.Ile613=) n.2875T= c.1836T= (p.Ile612=) c.1881T= (p.Ile627=) n.2216T= c.1878T= (p.Ile626=) c.1803T= (p.Ile601=) c.1800T= (p.Ile600=) c.1788T= (p.Ile596=) | |
| 11 | g.22263026_22263030delinsTAAAG | CA1957420212 | ANO5 | c.1431_1435delinsTAAAG (p.Ile477=) c.1839_1843delinsTAAAG (p.Ile613=) n.2875_2879delinsTAAAG c.1836_1840delinsTAAAG (p.Ile612=) c.1881_1885delinsTAAAG (p.Ile627=) n.2216_2220delinsTAAAG c.1878_1882delinsTAAAG (p.Ile626=) c.1803_1807delinsTAAAG (p.Ile601=) c.1800_1804delinsTAAAG (p.Ile600=) c.1788_1792delinsTAAAG (p.Ile596=) | |
| 11 | g.22263027A= | CA1957420214 | ANO5 | c.1432A= (p.Lys478=) c.1840A= (p.Lys614=) n.2876A= c.1837A= (p.Lys613=) c.1882A= (p.Lys628=) n.2217A= c.1879A= (p.Lys627=) c.1804A= (p.Lys602=) c.1801A= (p.Lys601=) c.1789A= (p.Lys597=) | |
| 11 | g.22263027A>C | CA379923054 | ANO5 | c.1432A>C (p.Lys478Gln) c.1840A>C (p.Lys614Gln) n.2876A>C c.1837A>C (p.Lys613Gln) c.1882A>C (p.Lys628Gln) n.2217A>C c.1879A>C (p.Lys627Gln) c.1804A>C (p.Lys602Gln) c.1801A>C (p.Lys601Gln) c.1789A>C (p.Lys597Gln) | |
| 11 | g.22263027A>G | CA379923055 | ANO5 | c.1432A>G (p.Lys478Glu) c.1840A>G (p.Lys614Glu) n.2876A>G c.1837A>G (p.Lys613Glu) c.1882A>G (p.Lys628Glu) n.2217A>G c.1879A>G (p.Lys627Glu) c.1804A>G (p.Lys602Glu) c.1801A>G (p.Lys601Glu) c.1789A>G (p.Lys597Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22263027A>T | CA379923056 | ANO5 | c.1432A>T (p.Lys478Ter) c.1840A>T (p.Lys614Ter) n.2876A>T c.1837A>T (p.Lys613Ter) c.1882A>T (p.Lys628Ter) n.2217A>T c.1879A>T (p.Lys627Ter) c.1804A>T (p.Lys602Ter) c.1801A>T (p.Lys601Ter) c.1789A>T (p.Lys597Ter) | |
| 11 | g.22263029_22263032del | CA5923377 | ANO5 | c.1434_1437del (p.Glu479ProfsTer7) c.1842_1845del (p.Glu615ProfsTer7) n.2878_2881del c.1839_1842del (p.Glu614ProfsTer7) c.1884_1887del (p.Glu629ProfsTer7) n.2219_2222del c.1881_1884del (p.Glu628ProfsTer7) c.1806_1809del (p.Glu603ProfsTer7) c.1803_1806del (p.Glu602ProfsTer7) c.1791_1794del (p.Glu598ProfsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263028A>C | CA379923057 | ANO5 | c.1433A>C (p.Lys478Thr) c.1841A>C (p.Lys614Thr) n.2877A>C c.1838A>C (p.Lys613Thr) c.1883A>C (p.Lys628Thr) n.2218A>C c.1880A>C (p.Lys627Thr) c.1805A>C (p.Lys602Thr) c.1802A>C (p.Lys601Thr) c.1790A>C (p.Lys597Thr) | |
| 11 | g.22263028A>G | CA379923058 | ANO5 | c.1433A>G (p.Lys478Arg) c.1841A>G (p.Lys614Arg) n.2877A>G c.1838A>G (p.Lys613Arg) c.1883A>G (p.Lys628Arg) n.2218A>G c.1880A>G (p.Lys627Arg) c.1805A>G (p.Lys602Arg) c.1802A>G (p.Lys601Arg) c.1790A>G (p.Lys597Arg) | |
| 11 | g.22263028A>T | CA379923059 | ANO5 | c.1433A>T (p.Lys478Ile) c.1841A>T (p.Lys614Ile) n.2877A>T c.1838A>T (p.Lys613Ile) c.1883A>T (p.Lys628Ile) n.2218A>T c.1880A>T (p.Lys627Ile) c.1805A>T (p.Lys602Ile) c.1802A>T (p.Lys601Ile) c.1790A>T (p.Lys597Ile) | |
| 11 | g.22263029A= | CA1957420215 | ANO5 | c.1434A= (p.Lys478=) c.1842A= (p.Lys614=) n.2878A= c.1839A= (p.Lys613=) c.1884A= (p.Lys628=) n.2219A= c.1881A= (p.Lys627=) c.1806A= (p.Lys602=) c.1803A= (p.Lys601=) c.1791A= (p.Lys597=) | |
| 11 | g.22263029A>C | CA379923060 | ANO5 | c.1434A>C (p.Lys478Asn) c.1842A>C (p.Lys614Asn) n.2878A>C c.1839A>C (p.Lys613Asn) c.1884A>C (p.Lys628Asn) n.2219A>C c.1881A>C (p.Lys627Asn) c.1806A>C (p.Lys602Asn) c.1803A>C (p.Lys601Asn) c.1791A>C (p.Lys597Asn) | |
| 11 | g.22263029A>G | CA473407354 | ANO5 | c.1434A>G (p.Lys478=) c.1842A>G (p.Lys614=) n.2878A>G c.1839A>G (p.Lys613=) c.1884A>G (p.Lys628=) n.2219A>G c.1881A>G (p.Lys627=) c.1806A>G (p.Lys602=) c.1803A>G (p.Lys601=) c.1791A>G (p.Lys597=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22263029A>T | CA379923061 | ANO5 | c.1434A>T (p.Lys478Asn) c.1842A>T (p.Lys614Asn) n.2878A>T c.1839A>T (p.Lys613Asn) c.1884A>T (p.Lys628Asn) n.2219A>T c.1881A>T (p.Lys627Asn) c.1806A>T (p.Lys602Asn) c.1803A>T (p.Lys601Asn) c.1791A>T (p.Lys597Asn) | |
| 11 | g.22263030G>A | CA379923063 | ANO5 | c.1435G>A (p.Glu479Lys) c.1843G>A (p.Glu615Lys) n.2879G>A c.1840G>A (p.Glu614Lys) c.1885G>A (p.Glu629Lys) n.2220G>A c.1882G>A (p.Glu628Lys) c.1807G>A (p.Glu603Lys) c.1804G>A (p.Glu602Lys) c.1792G>A (p.Glu598Lys) | |
| 11 | g.22263030G>C | CA379923064 | ANO5 | c.1435G>C (p.Glu479Gln) c.1843G>C (p.Glu615Gln) n.2879G>C c.1840G>C (p.Glu614Gln) c.1885G>C (p.Glu629Gln) n.2220G>C c.1882G>C (p.Glu628Gln) c.1807G>C (p.Glu603Gln) c.1804G>C (p.Glu602Gln) c.1792G>C (p.Glu598Gln) | |
| 11 | g.22263030G>T | CA379923062 | ANO5 | c.1435G>T (p.Glu479Ter) c.1843G>T (p.Glu615Ter) n.2879G>T c.1840G>T (p.Glu614Ter) c.1885G>T (p.Glu629Ter) n.2220G>T c.1882G>T (p.Glu628Ter) c.1807G>T (p.Glu603Ter) c.1804G>T (p.Glu602Ter) c.1792G>T (p.Glu598Ter) | COSMIC |
| 11 | g.22263031A>C | CA379923065 | ANO5 | c.1436A>C (p.Glu479Ala) c.1844A>C (p.Glu615Ala) n.2880A>C c.1841A>C (p.Glu614Ala) c.1886A>C (p.Glu629Ala) n.2221A>C c.1883A>C (p.Glu628Ala) c.1808A>C (p.Glu603Ala) c.1805A>C (p.Glu602Ala) c.1793A>C (p.Glu598Ala) | |
| 11 | g.22263031A>G | CA379923066 | ANO5 | c.1436A>G (p.Glu479Gly) c.1844A>G (p.Glu615Gly) n.2880A>G c.1841A>G (p.Glu614Gly) c.1886A>G (p.Glu629Gly) n.2221A>G c.1883A>G (p.Glu628Gly) c.1808A>G (p.Glu603Gly) c.1805A>G (p.Glu602Gly) c.1793A>G (p.Glu598Gly) | |
| 11 | g.22263031A>T | CA379923067 | ANO5 | c.1436A>T (p.Glu479Val) c.1844A>T (p.Glu615Val) n.2880A>T c.1841A>T (p.Glu614Val) c.1886A>T (p.Glu629Val) n.2221A>T c.1883A>T (p.Glu628Val) c.1808A>T (p.Glu603Val) c.1805A>T (p.Glu602Val) c.1793A>T (p.Glu598Val) | |
| 11 | g.22263032del | CA2574781613 | ANO5 | c.1437del (p.Ala480ProfsTer7) c.1845del (p.Ala616ProfsTer7) n.2881del c.1842del (p.Ala615ProfsTer7) c.1887del (p.Ala630ProfsTer7) n.2222del c.1884del (p.Ala629ProfsTer7) c.1809del (p.Ala604ProfsTer7) c.1806del (p.Ala603ProfsTer7) c.1794del (p.Ala599ProfsTer7) | |
| 11 | g.22263032A>C | CA379923068 | ANO5 | c.1437A>C (p.Glu479Asp) c.1845A>C (p.Glu615Asp) n.2881A>C c.1842A>C (p.Glu614Asp) c.1887A>C (p.Glu629Asp) n.2222A>C c.1884A>C (p.Glu628Asp) c.1809A>C (p.Glu603Asp) c.1806A>C (p.Glu602Asp) c.1794A>C (p.Glu598Asp) | |
| 11 | g.22263032A>G | CA473407355 | ANO5 | c.1437A>G (p.Glu479=) c.1845A>G (p.Glu615=) n.2881A>G c.1842A>G (p.Glu614=) c.1887A>G (p.Glu629=) n.2222A>G c.1884A>G (p.Glu628=) c.1809A>G (p.Glu603=) c.1806A>G (p.Glu602=) c.1794A>G (p.Glu598=) | |
| 11 | g.22263032A>T | CA379923069 | ANO5 | c.1437A>T (p.Glu479Asp) c.1845A>T (p.Glu615Asp) n.2881A>T c.1842A>T (p.Glu614Asp) c.1887A>T (p.Glu629Asp) n.2222A>T c.1884A>T (p.Glu628Asp) c.1809A>T (p.Glu603Asp) c.1806A>T (p.Glu602Asp) c.1794A>T (p.Glu598Asp) | |
| 11 | g.22263033G>A | CA5923379 | ANO5 | c.1438G>A (p.Ala480Thr) c.1846G>A (p.Ala616Thr) n.2882G>A c.1843G>A (p.Ala615Thr) c.1888G>A (p.Ala630Thr) n.2223G>A c.1885G>A (p.Ala629Thr) c.1810G>A (p.Ala604Thr) c.1807G>A (p.Ala603Thr) c.1795G>A (p.Ala599Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263033G>C | CA379923070 | ANO5 | c.1438G>C (p.Ala480Pro) c.1846G>C (p.Ala616Pro) n.2882G>C c.1843G>C (p.Ala615Pro) c.1888G>C (p.Ala630Pro) n.2223G>C c.1885G>C (p.Ala629Pro) c.1810G>C (p.Ala604Pro) c.1807G>C (p.Ala603Pro) c.1795G>C (p.Ala599Pro) | |
| 11 | g.22263033G= | CA1957420217 | ANO5 | c.1438G= (p.Ala480=) c.1846G= (p.Ala616=) n.2882G= c.1843G= (p.Ala615=) c.1888G= (p.Ala630=) n.2223G= c.1885G= (p.Ala629=) c.1810G= (p.Ala604=) c.1807G= (p.Ala603=) c.1795G= (p.Ala599=) | |
| 11 | g.22263033G>T | CA379923071 | ANO5 | c.1438G>T (p.Ala480Ser) c.1846G>T (p.Ala616Ser) n.2882G>T c.1843G>T (p.Ala615Ser) c.1888G>T (p.Ala630Ser) n.2223G>T c.1885G>T (p.Ala629Ser) c.1810G>T (p.Ala604Ser) c.1807G>T (p.Ala603Ser) c.1795G>T (p.Ala599Ser) | |
| 11 | g.22263033_22263034delinsGC | CA1957420216 | ANO5 | c.1438_1439delinsGC (p.Ala480=) c.1846_1847delinsGC (p.Ala616=) n.2882_2883delinsGC c.1843_1844delinsGC (p.Ala615=) c.1888_1889delinsGC (p.Ala630=) n.2223_2224delinsGC c.1885_1886delinsGC (p.Ala629=) c.1810_1811delinsGC (p.Ala604=) c.1807_1808delinsGC (p.Ala603=) c.1795_1796delinsGC (p.Ala599=) | |
| 11 | g.22263034C>A | CA379923072 | ANO5 | c.1439C>A (p.Ala480Asp) c.1847C>A (p.Ala616Asp) n.2883C>A c.1844C>A (p.Ala615Asp) c.1889C>A (p.Ala630Asp) n.2224C>A c.1886C>A (p.Ala629Asp) c.1811C>A (p.Ala604Asp) c.1808C>A (p.Ala603Asp) c.1796C>A (p.Ala599Asp) | gnomAD v4 |
| 11 | g.22263034C= | CA1957420218 | ANO5 | c.1439C= (p.Ala480=) c.1847C= (p.Ala616=) n.2883C= c.1844C= (p.Ala615=) c.1889C= (p.Ala630=) n.2224C= c.1886C= (p.Ala629=) c.1811C= (p.Ala604=) c.1808C= (p.Ala603=) c.1796C= (p.Ala599=) | |
| 11 | g.22263034C>G | CA5923381 | ANO5 | c.1439C>G (p.Ala480Gly) c.1847C>G (p.Ala616Gly) n.2883C>G c.1844C>G (p.Ala615Gly) c.1889C>G (p.Ala630Gly) n.2224C>G c.1886C>G (p.Ala629Gly) c.1811C>G (p.Ala604Gly) c.1808C>G (p.Ala603Gly) c.1796C>G (p.Ala599Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263034C>T | CA5923380 | ANO5 | c.1439C>T (p.Ala480Val) c.1847C>T (p.Ala616Val) n.2883C>T c.1844C>T (p.Ala615Val) c.1889C>T (p.Ala630Val) n.2224C>T c.1886C>T (p.Ala629Val) c.1811C>T (p.Ala604Val) c.1808C>T (p.Ala603Val) c.1796C>T (p.Ala599Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263035del | CA5923378 | ANO5 | c.1440del (p.Ile481PhefsTer6) c.1848del (p.Ile617PhefsTer6) n.2884del c.1845del (p.Ile616PhefsTer6) c.1890del (p.Ile631PhefsTer6) n.2225del c.1887del (p.Ile630PhefsTer6) c.1812del (p.Ile605PhefsTer6) c.1809del (p.Ile604PhefsTer6) c.1797del (p.Ile600PhefsTer6) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263035C>A | CA473407356 | ANO5 | c.1440C>A (p.Ala480=) c.1848C>A (p.Ala616=) n.2884C>A c.1845C>A (p.Ala615=) c.1890C>A (p.Ala630=) n.2225C>A c.1887C>A (p.Ala629=) c.1812C>A (p.Ala604=) c.1809C>A (p.Ala603=) c.1797C>A (p.Ala599=) | |
| 11 | g.22263035C>G | CA473407357 | ANO5 | c.1440C>G (p.Ala480=) c.1848C>G (p.Ala616=) n.2884C>G c.1845C>G (p.Ala615=) c.1890C>G (p.Ala630=) n.2225C>G c.1887C>G (p.Ala629=) c.1812C>G (p.Ala604=) c.1809C>G (p.Ala603=) c.1797C>G (p.Ala599=) | |
| 11 | g.22263035C>T | CA473407358 | ANO5 | c.1440C>T (p.Ala480=) c.1848C>T (p.Ala616=) n.2884C>T c.1845C>T (p.Ala615=) c.1890C>T (p.Ala630=) n.2225C>T c.1887C>T (p.Ala629=) c.1812C>T (p.Ala604=) c.1809C>T (p.Ala603=) c.1797C>T (p.Ala599=) | gnomAD v4 COSMIC |
| 11 | g.22263036A>C | CA379923075 | ANO5 | c.1441A>C (p.Ile481Leu) c.1849A>C (p.Ile617Leu) n.2885A>C c.1846A>C (p.Ile616Leu) c.1891A>C (p.Ile631Leu) n.2226A>C c.1888A>C (p.Ile630Leu) c.1813A>C (p.Ile605Leu) c.1810A>C (p.Ile604Leu) c.1798A>C (p.Ile600Leu) | |
| 11 | g.22263036A>G | CA379923073 | ANO5 | c.1441A>G (p.Ile481Val) c.1849A>G (p.Ile617Val) n.2885A>G c.1846A>G (p.Ile616Val) c.1891A>G (p.Ile631Val) n.2226A>G c.1888A>G (p.Ile630Val) c.1813A>G (p.Ile605Val) c.1810A>G (p.Ile604Val) c.1798A>G (p.Ile600Val) | gnomAD v4 |
| 11 | g.22263036A>T | CA379923074 | ANO5 | c.1441A>T (p.Ile481Phe) c.1849A>T (p.Ile617Phe) n.2885A>T c.1846A>T (p.Ile616Phe) c.1891A>T (p.Ile631Phe) n.2226A>T c.1888A>T (p.Ile630Phe) c.1813A>T (p.Ile605Phe) c.1810A>T (p.Ile604Phe) c.1798A>T (p.Ile600Phe) | |
| 11 | g.22263037T>A | CA379923076 | ANO5 | c.1442T>A (p.Ile481Asn) c.1850T>A (p.Ile617Asn) n.2886T>A c.1847T>A (p.Ile616Asn) c.1892T>A (p.Ile631Asn) n.2227T>A c.1889T>A (p.Ile630Asn) c.1814T>A (p.Ile605Asn) c.1811T>A (p.Ile604Asn) c.1799T>A (p.Ile600Asn) | |
| 11 | g.22263037T>C | CA379923077 | ANO5 | c.1442T>C (p.Ile481Thr) c.1850T>C (p.Ile617Thr) n.2886T>C c.1847T>C (p.Ile616Thr) c.1892T>C (p.Ile631Thr) n.2227T>C c.1889T>C (p.Ile630Thr) c.1814T>C (p.Ile605Thr) c.1811T>C (p.Ile604Thr) c.1799T>C (p.Ile600Thr) | |
| 11 | g.22263037T>G | CA379923078 | ANO5 | c.1442T>G (p.Ile481Ser) c.1850T>G (p.Ile617Ser) n.2886T>G c.1847T>G (p.Ile616Ser) c.1892T>G (p.Ile631Ser) n.2227T>G c.1889T>G (p.Ile630Ser) c.1814T>G (p.Ile605Ser) c.1811T>G (p.Ile604Ser) c.1799T>G (p.Ile600Ser) | |
| 11 | g.22263038T>A | CA473407359 | ANO5 | c.1443T>A (p.Ile481=) c.1851T>A (p.Ile617=) n.2887T>A c.1848T>A (p.Ile616=) c.1893T>A (p.Ile631=) n.2228T>A c.1890T>A (p.Ile630=) c.1815T>A (p.Ile605=) c.1812T>A (p.Ile604=) c.1800T>A (p.Ile600=) | ClinVar gnomAD v4 |
| 11 | g.22263038T>C | CA473407360 | ANO5 | c.1443T>C (p.Ile481=) c.1851T>C (p.Ile617=) n.2887T>C c.1848T>C (p.Ile616=) c.1893T>C (p.Ile631=) n.2228T>C c.1890T>C (p.Ile630=) c.1815T>C (p.Ile605=) c.1812T>C (p.Ile604=) c.1800T>C (p.Ile600=) | |
| 11 | g.22263038T>G | CA379923079 | ANO5 | c.1443T>G (p.Ile481Met) c.1851T>G (p.Ile617Met) n.2887T>G c.1848T>G (p.Ile616Met) c.1893T>G (p.Ile631Met) n.2228T>G c.1890T>G (p.Ile630Met) c.1815T>G (p.Ile605Met) c.1812T>G (p.Ile604Met) c.1800T>G (p.Ile600Met) | gnomAD v4 |
| 11 | g.22263039T>A | CA379923080 | ANO5 | c.1444T>A (p.Tyr482Asn) c.1852T>A (p.Tyr618Asn) n.2888T>A c.1849T>A (p.Tyr617Asn) c.1894T>A (p.Tyr632Asn) n.2229T>A c.1891T>A (p.Tyr631Asn) c.1816T>A (p.Tyr606Asn) c.1813T>A (p.Tyr605Asn) c.1801T>A (p.Tyr601Asn) | |
| 11 | g.22263039T>C | CA379923081 | ANO5 | c.1444T>C (p.Tyr482His) c.1852T>C (p.Tyr618His) n.2888T>C c.1849T>C (p.Tyr617His) c.1894T>C (p.Tyr632His) n.2229T>C c.1891T>C (p.Tyr631His) c.1816T>C (p.Tyr606His) c.1813T>C (p.Tyr605His) c.1801T>C (p.Tyr601His) | |
| 11 | g.22263039T>G | CA5923382 | ANO5 | c.1444T>G (p.Tyr482Asp) c.1852T>G (p.Tyr618Asp) n.2888T>G c.1849T>G (p.Tyr617Asp) c.1894T>G (p.Tyr632Asp) n.2229T>G c.1891T>G (p.Tyr631Asp) c.1816T>G (p.Tyr606Asp) c.1813T>G (p.Tyr605Asp) c.1801T>G (p.Tyr601Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263039T= | CA1957420219 | ANO5 | c.1444T= (p.Tyr482=) c.1852T= (p.Tyr618=) n.2888T= c.1849T= (p.Tyr617=) c.1894T= (p.Tyr632=) n.2229T= c.1891T= (p.Tyr631=) c.1816T= (p.Tyr606=) c.1813T= (p.Tyr605=) c.1801T= (p.Tyr601=) | |
| 11 | g.22263040A= | CA1957420220 | ANO5 | c.1445A= (p.Tyr482=) c.1853A= (p.Tyr618=) n.2889A= c.1850A= (p.Tyr617=) c.1895A= (p.Tyr632=) n.2230A= c.1892A= (p.Tyr631=) c.1817A= (p.Tyr606=) c.1814A= (p.Tyr605=) c.1802A= (p.Tyr601=) | |
| 11 | g.22263040A>C | CA5923383 | ANO5 | c.1445A>C (p.Tyr482Ser) c.1853A>C (p.Tyr618Ser) n.2889A>C c.1850A>C (p.Tyr617Ser) c.1895A>C (p.Tyr632Ser) n.2230A>C c.1892A>C (p.Tyr631Ser) c.1817A>C (p.Tyr606Ser) c.1814A>C (p.Tyr605Ser) c.1802A>C (p.Tyr601Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.22263040A>G | CA379923082 | ANO5 | c.1445A>G (p.Tyr482Cys) c.1853A>G (p.Tyr618Cys) n.2889A>G c.1850A>G (p.Tyr617Cys) c.1895A>G (p.Tyr632Cys) n.2230A>G c.1892A>G (p.Tyr631Cys) c.1817A>G (p.Tyr606Cys) c.1814A>G (p.Tyr605Cys) c.1802A>G (p.Tyr601Cys) | |
| 11 | g.22263040A>T | CA379923083 | ANO5 | c.1445A>T (p.Tyr482Phe) c.1853A>T (p.Tyr618Phe) n.2889A>T c.1850A>T (p.Tyr617Phe) c.1895A>T (p.Tyr632Phe) n.2230A>T c.1892A>T (p.Tyr631Phe) c.1817A>T (p.Tyr606Phe) c.1814A>T (p.Tyr605Phe) c.1802A>T (p.Tyr601Phe) | |
| 11 | g.22263041T>A | CA379923084 | ANO5 | c.1446T>A (p.Tyr482Ter) c.1854T>A (p.Tyr618Ter) n.2890T>A c.1851T>A (p.Tyr617Ter) c.1896T>A (p.Tyr632Ter) n.2231T>A c.1893T>A (p.Tyr631Ter) c.1818T>A (p.Tyr606Ter) c.1815T>A (p.Tyr605Ter) c.1803T>A (p.Tyr601Ter) | |
| 11 | g.22263041T>C | CA473407361 | ANO5 | c.1446T>C (p.Tyr482=) c.1854T>C (p.Tyr618=) n.2890T>C c.1851T>C (p.Tyr617=) c.1896T>C (p.Tyr632=) n.2231T>C c.1893T>C (p.Tyr631=) c.1818T>C (p.Tyr606=) c.1815T>C (p.Tyr605=) c.1803T>C (p.Tyr601=) | |
| 11 | g.22263041T>G | CA379923085 | ANO5 | c.1446T>G (p.Tyr482Ter) c.1854T>G (p.Tyr618Ter) n.2890T>G c.1851T>G (p.Tyr617Ter) c.1896T>G (p.Tyr632Ter) n.2231T>G c.1893T>G (p.Tyr631Ter) c.1818T>G (p.Tyr606Ter) c.1815T>G (p.Tyr605Ter) c.1803T>G (p.Tyr601Ter) | |
| 11 | g.22263042C>A | CA379923088 | ANO5 | c.1447C>A (p.Pro483Thr) c.1855C>A (p.Pro619Thr) n.2891C>A c.1852C>A (p.Pro618Thr) c.1897C>A (p.Pro633Thr) n.2232C>A c.1894C>A (p.Pro632Thr) c.1819C>A (p.Pro607Thr) c.1816C>A (p.Pro606Thr) c.1804C>A (p.Pro602Thr) | dbSNP |
| 11 | g.22263042C= | CA1957420221 | ANO5 | c.1447C= (p.Pro483=) c.1855C= (p.Pro619=) n.2891C= c.1852C= (p.Pro618=) c.1897C= (p.Pro633=) n.2232C= c.1894C= (p.Pro632=) c.1819C= (p.Pro607=) c.1816C= (p.Pro606=) c.1804C= (p.Pro602=) | |
| 11 | g.22263042C>G | CA379923087 | ANO5 | c.1447C>G (p.Pro483Ala) c.1855C>G (p.Pro619Ala) n.2891C>G c.1852C>G (p.Pro618Ala) c.1897C>G (p.Pro633Ala) n.2232C>G c.1894C>G (p.Pro632Ala) c.1819C>G (p.Pro607Ala) c.1816C>G (p.Pro606Ala) c.1804C>G (p.Pro602Ala) | |
| 11 | g.22263042C>T | CA379923086 | ANO5 | c.1447C>T (p.Pro483Ser) c.1855C>T (p.Pro619Ser) n.2891C>T c.1852C>T (p.Pro618Ser) c.1897C>T (p.Pro633Ser) n.2232C>T c.1894C>T (p.Pro632Ser) c.1819C>T (p.Pro607Ser) c.1816C>T (p.Pro606Ser) c.1804C>T (p.Pro602Ser) | |
| 11 | g.22263043C>A | CA379923089 | ANO5 | c.1448C>A (p.Pro483His) c.1856C>A (p.Pro619His) n.2892C>A c.1853C>A (p.Pro618His) c.1898C>A (p.Pro633His) n.2233C>A c.1895C>A (p.Pro632His) c.1820C>A (p.Pro607His) c.1817C>A (p.Pro606His) c.1805C>A (p.Pro602His) | |
| 11 | g.22263043C= | CA1957420222 | ANO5 | c.1448C= (p.Pro483=) c.1856C= (p.Pro619=) n.2892C= c.1853C= (p.Pro618=) c.1898C= (p.Pro633=) n.2233C= c.1895C= (p.Pro632=) c.1820C= (p.Pro607=) c.1817C= (p.Pro606=) c.1805C= (p.Pro602=) | |
| 11 | g.22263043C>G | CA379923091 | ANO5 | c.1448C>G (p.Pro483Arg) c.1856C>G (p.Pro619Arg) n.2892C>G c.1853C>G (p.Pro618Arg) c.1898C>G (p.Pro633Arg) n.2233C>G c.1895C>G (p.Pro632Arg) c.1820C>G (p.Pro607Arg) c.1817C>G (p.Pro606Arg) c.1805C>G (p.Pro602Arg) | |
| 11 | g.22263043C>T | CA379923090 | ANO5 | c.1448C>T (p.Pro483Leu) c.1856C>T (p.Pro619Leu) n.2892C>T c.1853C>T (p.Pro618Leu) c.1898C>T (p.Pro633Leu) n.2233C>T c.1895C>T (p.Pro632Leu) c.1820C>T (p.Pro607Leu) c.1817C>T (p.Pro606Leu) c.1805C>T (p.Pro602Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263044del | CA2740093658 | ANO5 | c.1448+1del (n.1448+1del) c.1856+1del (n.1856+1del) n.2892+1del c.1853+1del (n.1853+1del) c.1898+1del (n.1898+1del) n.2233+1del c.1895+1del (n.1895+1del) c.1820+1del (n.1820+1del) c.1817+1del (n.1817+1del) c.1805+1del (n.1805+1del) | ClinVar |
| 11 | g.22263044G>A | CA201366 | ANO5 | c.1448+1G>A (n.1448+1G>A) c.1856+1G>A (n.1856+1G>A) n.2892+1G>A c.1853+1G>A (n.1853+1G>A) c.1898+1G>A (n.1898+1G>A) n.2233+1G>A c.1895+1G>A (n.1895+1G>A) c.1820+1G>A (n.1820+1G>A) c.1817+1G>A (n.1817+1G>A) c.1805+1G>A (n.1805+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263044G>C | CA379923092 | ANO5 | c.1448+1G>C (n.1448+1G>C) c.1856+1G>C (n.1856+1G>C) n.2892+1G>C c.1853+1G>C (n.1853+1G>C) c.1898+1G>C (n.1898+1G>C) n.2233+1G>C c.1895+1G>C (n.1895+1G>C) c.1820+1G>C (n.1820+1G>C) c.1817+1G>C (n.1817+1G>C) c.1805+1G>C (n.1805+1G>C) | |
| 11 | g.22263044G= | CA1957420223 | ANO5 | c.1448+1G= (n.1448+1G=) c.1856+1G= (n.1856+1G=) n.2892+1G= c.1853+1G= (n.1853+1G=) c.1898+1G= (n.1898+1G=) n.2233+1G= c.1895+1G= (n.1895+1G=) c.1820+1G= (n.1820+1G=) c.1817+1G= (n.1817+1G=) c.1805+1G= (n.1805+1G=) | |
| 11 | g.22263044G>T | CA379923093 | ANO5 | c.1448+1G>T (n.1448+1G>T) c.1856+1G>T (n.1856+1G>T) n.2892+1G>T c.1853+1G>T (n.1853+1G>T) c.1898+1G>T (n.1898+1G>T) n.2233+1G>T c.1895+1G>T (n.1895+1G>T) c.1820+1G>T (n.1820+1G>T) c.1817+1G>T (n.1817+1G>T) c.1805+1G>T (n.1805+1G>T) | |
| 11 | g.22263045T>A | CA379923094 | ANO5 | c.1448+2T>A (n.1448+2T>A) c.1856+2T>A (n.1856+2T>A) n.2892+2T>A c.1853+2T>A (n.1853+2T>A) c.1898+2T>A (n.1898+2T>A) n.2233+2T>A c.1895+2T>A (n.1895+2T>A) c.1820+2T>A (n.1820+2T>A) c.1817+2T>A (n.1817+2T>A) c.1805+2T>A (n.1805+2T>A) | |
| 11 | g.22263045T>C | CA379923095 | ANO5 | c.1448+2T>C (n.1448+2T>C) c.1856+2T>C (n.1856+2T>C) n.2892+2T>C c.1853+2T>C (n.1853+2T>C) c.1898+2T>C (n.1898+2T>C) n.2233+2T>C c.1895+2T>C (n.1895+2T>C) c.1820+2T>C (n.1820+2T>C) c.1817+2T>C (n.1817+2T>C) c.1805+2T>C (n.1805+2T>C) | gnomAD v4 COSMIC |
| 11 | g.22263045T>G | CA379923096 | ANO5 | c.1448+2T>G (n.1448+2T>G) c.1856+2T>G (n.1856+2T>G) n.2892+2T>G c.1853+2T>G (n.1853+2T>G) c.1898+2T>G (n.1898+2T>G) n.2233+2T>G c.1895+2T>G (n.1895+2T>G) c.1820+2T>G (n.1820+2T>G) c.1817+2T>G (n.1817+2T>G) c.1805+2T>G (n.1805+2T>G) | |
| 11 | g.22263046A= | CA1957420224 | ANO5 | c.1448+3A= (n.1448+3A=) c.1856+3A= (n.1856+3A=) n.2892+3A= c.1853+3A= (n.1853+3A=) c.1898+3A= (n.1898+3A=) n.2233+3A= c.1895+3A= (n.1895+3A=) c.1820+3A= (n.1820+3A=) c.1817+3A= (n.1817+3A=) c.1805+3A= (n.1805+3A=) | |
| 11 | g.22263046A>G | CA5923384 | ANO5 | c.1448+3A>G (n.1448+3A>G) c.1856+3A>G (n.1856+3A>G) n.2892+3A>G c.1853+3A>G (n.1853+3A>G) c.1898+3A>G (n.1898+3A>G) n.2233+3A>G c.1895+3A>G (n.1895+3A>G) c.1820+3A>G (n.1820+3A>G) c.1817+3A>G (n.1817+3A>G) c.1805+3A>G (n.1805+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263048G>C | CA2612838570 | ANO5 | c.1448+5G>C (n.1448+5G>C) c.1856+5G>C (n.1856+5G>C) n.2892+5G>C c.1853+5G>C (n.1853+5G>C) c.1898+5G>C (n.1898+5G>C) n.2233+5G>C c.1895+5G>C (n.1895+5G>C) c.1820+5G>C (n.1820+5G>C) c.1817+5G>C (n.1817+5G>C) c.1805+5G>C (n.1805+5G>C) | gnomAD v4 |
| 11 | g.22263049T>C | CA218768795 | ANO5 | c.1448+6T>C (n.1448+6T>C) c.1856+6T>C (n.1856+6T>C) n.2892+6T>C c.1853+6T>C (n.1853+6T>C) c.1898+6T>C (n.1898+6T>C) n.2233+6T>C c.1895+6T>C (n.1895+6T>C) c.1820+6T>C (n.1820+6T>C) c.1817+6T>C (n.1817+6T>C) c.1805+6T>C (n.1805+6T>C) | dbSNP |
| 11 | g.22263049T= | CA1957420225 | ANO5 | c.1448+6T= (n.1448+6T=) c.1856+6T= (n.1856+6T=) n.2892+6T= c.1853+6T= (n.1853+6T=) c.1898+6T= (n.1898+6T=) n.2233+6T= c.1895+6T= (n.1895+6T=) c.1820+6T= (n.1820+6T=) c.1817+6T= (n.1817+6T=) c.1805+6T= (n.1805+6T=) | |
| 11 | g.22263050A= | CA1957420226 | ANO5 | c.1448+7A= (n.1448+7A=) c.1856+7A= (n.1856+7A=) n.2892+7A= c.1853+7A= (n.1853+7A=) c.1898+7A= (n.1898+7A=) n.2233+7A= c.1895+7A= (n.1895+7A=) c.1820+7A= (n.1820+7A=) c.1817+7A= (n.1817+7A=) c.1805+7A= (n.1805+7A=) | |
| 11 | g.22263050A>G | CA597911916 | ANO5 | c.1448+7A>G (n.1448+7A>G) c.1856+7A>G (n.1856+7A>G) n.2892+7A>G c.1853+7A>G (n.1853+7A>G) c.1898+7A>G (n.1898+7A>G) n.2233+7A>G c.1895+7A>G (n.1895+7A>G) c.1820+7A>G (n.1820+7A>G) c.1817+7A>G (n.1817+7A>G) c.1805+7A>G (n.1805+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22263052G>C | CA1957420228 | ANO5 | c.1448+9G>C (n.1448+9G>C) c.1856+9G>C (n.1856+9G>C) n.2892+9G>C c.1853+9G>C (n.1853+9G>C) c.1898+9G>C (n.1898+9G>C) n.2233+9G>C c.1895+9G>C (n.1895+9G>C) c.1820+9G>C (n.1820+9G>C) c.1817+9G>C (n.1817+9G>C) c.1805+9G>C (n.1805+9G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22263052G= | CA1957420227 | ANO5 | c.1448+9G= (n.1448+9G=) c.1856+9G= (n.1856+9G=) n.2892+9G= c.1853+9G= (n.1853+9G=) c.1898+9G= (n.1898+9G=) n.2233+9G= c.1895+9G= (n.1895+9G=) c.1820+9G= (n.1820+9G=) c.1817+9G= (n.1817+9G=) c.1805+9G= (n.1805+9G=) | |
| 11 | g.22263052G>T | CA2612838571 | ANO5 | c.1448+9G>T (n.1448+9G>T) c.1856+9G>T (n.1856+9G>T) n.2892+9G>T c.1853+9G>T (n.1853+9G>T) c.1898+9G>T (n.1898+9G>T) n.2233+9G>T c.1895+9G>T (n.1895+9G>T) c.1820+9G>T (n.1820+9G>T) c.1817+9G>T (n.1817+9G>T) c.1805+9G>T (n.1805+9G>T) | gnomAD v4 |
| 11 | g.22263053_22263061delinsACTTACAAG | CA1957420229 | ANO5 | c.1448+10_1448+18delinsACTTACAAG (n.1448+10_1448+18delinsACTTACAAG) c.1856+10_1856+18delinsACTTACAAG (n.1856+10_1856+18delinsACTTACAAG) n.2892+10_2892+18delinsACTTACAAG c.1853+10_1853+18delinsACTTACAAG (n.1853+10_1853+18delinsACTTACAAG) c.1898+10_1898+18delinsACTTACAAG (n.1898+10_1898+18delinsACTTACAAG) n.2233+10_2233+18delinsACTTACAAG c.1895+10_1895+18delinsACTTACAAG (n.1895+10_1895+18delinsACTTACAAG) c.1820+10_1820+18delinsACTTACAAG (n.1820+10_1820+18delinsACTTACAAG) c.1817+10_1817+18delinsACTTACAAG (n.1817+10_1817+18delinsACTTACAAG) c.1805+10_1805+18delinsACTTACAAG (n.1805+10_1805+18delinsACTTACAAG) | |
| 11 | g.22263054C>A | CA2612838572 | ANO5 | c.1448+11C>A (n.1448+11C>A) c.1856+11C>A (n.1856+11C>A) n.2892+11C>A c.1853+11C>A (n.1853+11C>A) c.1898+11C>A (n.1898+11C>A) n.2233+11C>A c.1895+11C>A (n.1895+11C>A) c.1820+11C>A (n.1820+11C>A) c.1817+11C>A (n.1817+11C>A) c.1805+11C>A (n.1805+11C>A) | gnomAD v4 |
| 11 | g.22263057_22263064del | CA597911917 | ANO5 | c.1448+14_1448+21del (n.1448+14_1448+21del) c.1856+14_1856+21del (n.1856+14_1856+21del) n.2892+14_2892+21del c.1853+14_1853+21del (n.1853+14_1853+21del) c.1898+14_1898+21del (n.1898+14_1898+21del) n.2233+14_2233+21del c.1895+14_1895+21del (n.1895+14_1895+21del) c.1820+14_1820+21del (n.1820+14_1820+21del) c.1817+14_1817+21del (n.1817+14_1817+21del) c.1805+14_1805+21del (n.1805+14_1805+21del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263056T>A | CA2612838573 | ANO5 | c.1448+13T>A (n.1448+13T>A) c.1856+13T>A (n.1856+13T>A) n.2892+13T>A c.1853+13T>A (n.1853+13T>A) c.1898+13T>A (n.1898+13T>A) n.2233+13T>A c.1895+13T>A (n.1895+13T>A) c.1820+13T>A (n.1820+13T>A) c.1817+13T>A (n.1817+13T>A) c.1805+13T>A (n.1805+13T>A) | gnomAD v4 |
| 11 | g.22263056T>C | CA5923385 | ANO5 | c.1448+13T>C (n.1448+13T>C) c.1856+13T>C (n.1856+13T>C) n.2892+13T>C c.1853+13T>C (n.1853+13T>C) c.1898+13T>C (n.1898+13T>C) n.2233+13T>C c.1895+13T>C (n.1895+13T>C) c.1820+13T>C (n.1820+13T>C) c.1817+13T>C (n.1817+13T>C) c.1805+13T>C (n.1805+13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263056T= | CA1957420230 | ANO5 | c.1448+13T= (n.1448+13T=) c.1856+13T= (n.1856+13T=) n.2892+13T= c.1853+13T= (n.1853+13T=) c.1898+13T= (n.1898+13T=) n.2233+13T= c.1895+13T= (n.1895+13T=) c.1820+13T= (n.1820+13T=) c.1817+13T= (n.1817+13T=) c.1805+13T= (n.1805+13T=) | |
| 11 | g.22263058C>A | CA5923387 | ANO5 | c.1448+15C>A (n.1448+15C>A) c.1856+15C>A (n.1856+15C>A) n.2892+15C>A c.1853+15C>A (n.1853+15C>A) c.1898+15C>A (n.1898+15C>A) n.2233+15C>A c.1895+15C>A (n.1895+15C>A) c.1820+15C>A (n.1820+15C>A) c.1817+15C>A (n.1817+15C>A) c.1805+15C>A (n.1805+15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263058C= | CA1957420231 | ANO5 | c.1448+15C= (n.1448+15C=) c.1856+15C= (n.1856+15C=) n.2892+15C= c.1853+15C= (n.1853+15C=) c.1898+15C= (n.1898+15C=) n.2233+15C= c.1895+15C= (n.1895+15C=) c.1820+15C= (n.1820+15C=) c.1817+15C= (n.1817+15C=) c.1805+15C= (n.1805+15C=) | |
| 11 | g.22263058C>T | CA5923386 | ANO5 | c.1448+15C>T (n.1448+15C>T) c.1856+15C>T (n.1856+15C>T) n.2892+15C>T c.1853+15C>T (n.1853+15C>T) c.1898+15C>T (n.1898+15C>T) n.2233+15C>T c.1895+15C>T (n.1895+15C>T) c.1820+15C>T (n.1820+15C>T) c.1817+15C>T (n.1817+15C>T) c.1805+15C>T (n.1805+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263060A>G | CA2612838574 | ANO5 | c.1448+17A>G (n.1448+17A>G) c.1856+17A>G (n.1856+17A>G) n.2892+17A>G c.1853+17A>G (n.1853+17A>G) c.1898+17A>G (n.1898+17A>G) n.2233+17A>G c.1895+17A>G (n.1895+17A>G) c.1820+17A>G (n.1820+17A>G) c.1817+17A>G (n.1817+17A>G) c.1805+17A>G (n.1805+17A>G) | gnomAD v4 |
| 11 | g.22263062C>A | CA2612838575 | ANO5 | c.1448+19C>A (n.1448+19C>A) c.1856+19C>A (n.1856+19C>A) n.2892+19C>A c.1853+19C>A (n.1853+19C>A) c.1898+19C>A (n.1898+19C>A) n.2233+19C>A c.1895+19C>A (n.1895+19C>A) c.1820+19C>A (n.1820+19C>A) c.1817+19C>A (n.1817+19C>A) c.1805+19C>A (n.1805+19C>A) | gnomAD v4 |
| 11 | g.22263067del | CA2612838576 | ANO5 | c.1448+24del (n.1448+24del) c.1856+24del (n.1856+24del) n.2892+24del c.1853+24del (n.1853+24del) c.1898+24del (n.1898+24del) n.2233+24del c.1895+24del (n.1895+24del) c.1820+24del (n.1820+24del) c.1817+24del (n.1817+24del) c.1805+24del (n.1805+24del) | gnomAD v4 |
| 11 | g.22263064T>C | CA1957420232 | ANO5 | c.1448+21T>C (n.1448+21T>C) c.1856+21T>C (n.1856+21T>C) n.2892+21T>C c.1853+21T>C (n.1853+21T>C) c.1898+21T>C (n.1898+21T>C) n.2233+21T>C c.1895+21T>C (n.1895+21T>C) c.1820+21T>C (n.1820+21T>C) c.1817+21T>C (n.1817+21T>C) c.1805+21T>C (n.1805+21T>C) | dbSNP |
| 11 | g.22263064T= | CA1957420233 | ANO5 | c.1448+21T= (n.1448+21T=) c.1856+21T= (n.1856+21T=) n.2892+21T= c.1853+21T= (n.1853+21T=) c.1898+21T= (n.1898+21T=) n.2233+21T= c.1895+21T= (n.1895+21T=) c.1820+21T= (n.1820+21T=) c.1817+21T= (n.1817+21T=) c.1805+21T= (n.1805+21T=) | |
| 11 | g.22263068_22263071del | CA2612838577 | ANO5 | c.1448+25_1448+28del (n.1448+25_1448+28del) c.1856+25_1856+28del (n.1856+25_1856+28del) n.2892+25_2892+28del c.1853+25_1853+28del (n.1853+25_1853+28del) c.1898+25_1898+28del (n.1898+25_1898+28del) n.2233+25_2233+28del c.1895+25_1895+28del (n.1895+25_1895+28del) c.1820+25_1820+28del (n.1820+25_1820+28del) c.1817+25_1817+28del (n.1817+25_1817+28del) c.1805+25_1805+28del (n.1805+25_1805+28del) | gnomAD v4 |
| 11 | g.22263067T>C | CA2612838578 | ANO5 | c.1448+24T>C (n.1448+24T>C) c.1856+24T>C (n.1856+24T>C) n.2892+24T>C c.1853+24T>C (n.1853+24T>C) c.1898+24T>C (n.1898+24T>C) n.2233+24T>C c.1895+24T>C (n.1895+24T>C) c.1820+24T>C (n.1820+24T>C) c.1817+24T>C (n.1817+24T>C) c.1805+24T>C (n.1805+24T>C) | gnomAD v4 |
| 11 | g.22263067_22263072delinsTATTTG | CA1957420234 | ANO5 | c.1448+24_1448+29delinsTATTTG (n.1448+24_1448+29delinsTATTTG) c.1856+24_1856+29delinsTATTTG (n.1856+24_1856+29delinsTATTTG) n.2892+24_2892+29delinsTATTTG c.1853+24_1853+29delinsTATTTG (n.1853+24_1853+29delinsTATTTG) c.1898+24_1898+29delinsTATTTG (n.1898+24_1898+29delinsTATTTG) n.2233+24_2233+29delinsTATTTG c.1895+24_1895+29delinsTATTTG (n.1895+24_1895+29delinsTATTTG) c.1820+24_1820+29delinsTATTTG (n.1820+24_1820+29delinsTATTTG) c.1817+24_1817+29delinsTATTTG (n.1817+24_1817+29delinsTATTTG) c.1805+24_1805+29delinsTATTTG (n.1805+24_1805+29delinsTATTTG) | |
| 11 | g.22263072_22263076del | CA5923388 | ANO5 | c.1448+29_1448+33del (n.1448+29_1448+33del) c.1856+29_1856+33del (n.1856+29_1856+33del) n.2892+29_2892+33del c.1853+29_1853+33del (n.1853+29_1853+33del) c.1898+29_1898+33del (n.1898+29_1898+33del) n.2233+29_2233+33del c.1895+29_1895+33del (n.1895+29_1895+33del) c.1820+29_1820+33del (n.1820+29_1820+33del) c.1817+29_1817+33del (n.1817+29_1817+33del) c.1805+29_1805+33del (n.1805+29_1805+33del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263069T>G | CA2723539819 | ANO5 | c.1448+26T>G (n.1448+26T>G) c.1856+26T>G (n.1856+26T>G) n.2892+26T>G c.1853+26T>G (n.1853+26T>G) c.1898+26T>G (n.1898+26T>G) n.2233+26T>G c.1895+26T>G (n.1895+26T>G) c.1820+26T>G (n.1820+26T>G) c.1817+26T>G (n.1817+26T>G) c.1805+26T>G (n.1805+26T>G) | dbSNP |
| 11 | g.22263070T>C | CA2574781614 | ANO5 | c.1448+27T>C (n.1448+27T>C) c.1856+27T>C (n.1856+27T>C) n.2892+27T>C c.1853+27T>C (n.1853+27T>C) c.1898+27T>C (n.1898+27T>C) n.2233+27T>C c.1895+27T>C (n.1895+27T>C) c.1820+27T>C (n.1820+27T>C) c.1817+27T>C (n.1817+27T>C) c.1805+27T>C (n.1805+27T>C) | gnomAD v4 |
| 11 | g.22263070T>G | CA2574781615 | ANO5 | c.1448+27T>G (n.1448+27T>G) c.1856+27T>G (n.1856+27T>G) n.2892+27T>G c.1853+27T>G (n.1853+27T>G) c.1898+27T>G (n.1898+27T>G) n.2233+27T>G c.1895+27T>G (n.1895+27T>G) c.1820+27T>G (n.1820+27T>G) c.1817+27T>G (n.1817+27T>G) c.1805+27T>G (n.1805+27T>G) | |
| 11 | g.22263072G>A | CA674645665 | ANO5 | c.1448+29G>A (n.1448+29G>A) c.1856+29G>A (n.1856+29G>A) n.2892+29G>A c.1853+29G>A (n.1853+29G>A) c.1898+29G>A (n.1898+29G>A) n.2233+29G>A c.1895+29G>A (n.1895+29G>A) c.1820+29G>A (n.1820+29G>A) c.1817+29G>A (n.1817+29G>A) c.1805+29G>A (n.1805+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22263072G>C | CA674645667 | ANO5 | c.1448+29G>C (n.1448+29G>C) c.1856+29G>C (n.1856+29G>C) n.2892+29G>C c.1853+29G>C (n.1853+29G>C) c.1898+29G>C (n.1898+29G>C) n.2233+29G>C c.1895+29G>C (n.1895+29G>C) c.1820+29G>C (n.1820+29G>C) c.1817+29G>C (n.1817+29G>C) c.1805+29G>C (n.1805+29G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22263072G= | CA1957420235 | ANO5 | c.1448+29G= (n.1448+29G=) c.1856+29G= (n.1856+29G=) n.2892+29G= c.1853+29G= (n.1853+29G=) c.1898+29G= (n.1898+29G=) n.2233+29G= c.1895+29G= (n.1895+29G=) c.1820+29G= (n.1820+29G=) c.1817+29G= (n.1817+29G=) c.1805+29G= (n.1805+29G=) | |
| 11 | g.22263072G>T | CA5923389 | ANO5 | c.1448+29G>T (n.1448+29G>T) c.1856+29G>T (n.1856+29G>T) n.2892+29G>T c.1853+29G>T (n.1853+29G>T) c.1898+29G>T (n.1898+29G>T) n.2233+29G>T c.1895+29G>T (n.1895+29G>T) c.1820+29G>T (n.1820+29G>T) c.1817+29G>T (n.1817+29G>T) c.1805+29G>T (n.1805+29G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263073A= | CA1957420236 | ANO5 | c.1448+30A= (n.1448+30A=) c.1856+30A= (n.1856+30A=) n.2892+30A= c.1853+30A= (n.1853+30A=) c.1898+30A= (n.1898+30A=) n.2233+30A= c.1895+30A= (n.1895+30A=) c.1820+30A= (n.1820+30A=) c.1817+30A= (n.1817+30A=) c.1805+30A= (n.1805+30A=) | |
| 11 | g.22263073A>T | CA5923390 | ANO5 | c.1448+30A>T (n.1448+30A>T) c.1856+30A>T (n.1856+30A>T) n.2892+30A>T c.1853+30A>T (n.1853+30A>T) c.1898+30A>T (n.1898+30A>T) n.2233+30A>T c.1895+30A>T (n.1895+30A>T) c.1820+30A>T (n.1820+30A>T) c.1817+30A>T (n.1817+30A>T) c.1805+30A>T (n.1805+30A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263074T>C | CA5923391 | ANO5 | c.1448+31T>C (n.1448+31T>C) c.1856+31T>C (n.1856+31T>C) n.2892+31T>C c.1853+31T>C (n.1853+31T>C) c.1898+31T>C (n.1898+31T>C) n.2233+31T>C c.1895+31T>C (n.1895+31T>C) c.1820+31T>C (n.1820+31T>C) c.1817+31T>C (n.1817+31T>C) c.1805+31T>C (n.1805+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22263074T= | CA1957420237 | ANO5 | c.1448+31T= (n.1448+31T=) c.1856+31T= (n.1856+31T=) n.2892+31T= c.1853+31T= (n.1853+31T=) c.1898+31T= (n.1898+31T=) n.2233+31T= c.1895+31T= (n.1895+31T=) c.1820+31T= (n.1820+31T=) c.1817+31T= (n.1817+31T=) c.1805+31T= (n.1805+31T=) | |
| 11 | g.22263076del | CA2574781616 | ANO5 | c.1448+33del (n.1448+33del) c.1856+33del (n.1856+33del) n.2892+33del c.1853+33del (n.1853+33del) c.1898+33del (n.1898+33del) n.2233+33del c.1895+33del (n.1895+33del) c.1820+33del (n.1820+33del) c.1817+33del (n.1817+33del) c.1805+33del (n.1805+33del) | |
| 11 | g.22263076T>A | CA597911918 | ANO5 | c.1448+33T>A (n.1448+33T>A) c.1856+33T>A (n.1856+33T>A) n.2892+33T>A c.1853+33T>A (n.1853+33T>A) c.1898+33T>A (n.1898+33T>A) n.2233+33T>A c.1895+33T>A (n.1895+33T>A) c.1820+33T>A (n.1820+33T>A) c.1817+33T>A (n.1817+33T>A) c.1805+33T>A (n.1805+33T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22263076T= | CA1957420238 | ANO5 | c.1448+33T= (n.1448+33T=) c.1856+33T= (n.1856+33T=) n.2892+33T= c.1853+33T= (n.1853+33T=) c.1898+33T= (n.1898+33T=) n.2233+33T= c.1895+33T= (n.1895+33T=) c.1820+33T= (n.1820+33T=) c.1817+33T= (n.1817+33T=) c.1805+33T= (n.1805+33T=) | |
| 11 | g.22263078A= | CA1957420239 | ANO5 | c.1448+35A= (n.1448+35A=) c.1856+35A= (n.1856+35A=) n.2892+35A= c.1853+35A= (n.1853+35A=) c.1898+35A= (n.1898+35A=) n.2233+35A= c.1895+35A= (n.1895+35A=) c.1820+35A= (n.1820+35A=) c.1817+35A= (n.1817+35A=) c.1805+35A= (n.1805+35A=) | |
| 11 | g.22263078A>G | CA218768817 | ANO5 | c.1448+35A>G (n.1448+35A>G) c.1856+35A>G (n.1856+35A>G) n.2892+35A>G c.1853+35A>G (n.1853+35A>G) c.1898+35A>G (n.1898+35A>G) n.2233+35A>G c.1895+35A>G (n.1895+35A>G) c.1820+35A>G (n.1820+35A>G) c.1817+35A>G (n.1817+35A>G) c.1805+35A>G (n.1805+35A>G) | dbSNP |
| 11 | g.22263079G= | CA1957420240 | ANO5 | c.1448+36G= (n.1448+36G=) c.1856+36G= (n.1856+36G=) n.2892+36G= c.1853+36G= (n.1853+36G=) c.1898+36G= (n.1898+36G=) n.2233+36G= c.1895+36G= (n.1895+36G=) c.1820+36G= (n.1820+36G=) c.1817+36G= (n.1817+36G=) c.1805+36G= (n.1805+36G=) | |
| 11 | g.22263079G>T | CA5923392 | ANO5 | c.1448+36G>T (n.1448+36G>T) c.1856+36G>T (n.1856+36G>T) n.2892+36G>T c.1853+36G>T (n.1853+36G>T) c.1898+36G>T (n.1898+36G>T) n.2233+36G>T c.1895+36G>T (n.1895+36G>T) c.1820+36G>T (n.1820+36G>T) c.1817+36G>T (n.1817+36G>T) c.1805+36G>T (n.1805+36G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263080T>A | CA2612838579 | ANO5 | c.1448+37T>A (n.1448+37T>A) c.1856+37T>A (n.1856+37T>A) n.2892+37T>A c.1853+37T>A (n.1853+37T>A) c.1898+37T>A (n.1898+37T>A) n.2233+37T>A c.1895+37T>A (n.1895+37T>A) c.1820+37T>A (n.1820+37T>A) c.1817+37T>A (n.1817+37T>A) c.1805+37T>A (n.1805+37T>A) | gnomAD v4 |
| 11 | g.22263080T>G | CA2612838580 | ANO5 | c.1448+37T>G (n.1448+37T>G) c.1856+37T>G (n.1856+37T>G) n.2892+37T>G c.1853+37T>G (n.1853+37T>G) c.1898+37T>G (n.1898+37T>G) n.2233+37T>G c.1895+37T>G (n.1895+37T>G) c.1820+37T>G (n.1820+37T>G) c.1817+37T>G (n.1817+37T>G) c.1805+37T>G (n.1805+37T>G) | gnomAD v4 |
| 11 | g.22263081A>G | CA2574781617 | ANO5 | c.1448+38A>G (n.1448+38A>G) c.1856+38A>G (n.1856+38A>G) n.2892+38A>G c.1853+38A>G (n.1853+38A>G) c.1898+38A>G (n.1898+38A>G) n.2233+38A>G c.1895+38A>G (n.1895+38A>G) c.1820+38A>G (n.1820+38A>G) c.1817+38A>G (n.1817+38A>G) c.1805+38A>G (n.1805+38A>G) | gnomAD v4 |
| 11 | g.22263082_22263083del | CA2612838581 | ANO5 | c.1448+39_1448+40del (n.1448+39_1448+40del) c.1856+39_1856+40del (n.1856+39_1856+40del) n.2892+39_2892+40del c.1853+39_1853+40del (n.1853+39_1853+40del) c.1898+39_1898+40del (n.1898+39_1898+40del) n.2233+39_2233+40del c.1895+39_1895+40del (n.1895+39_1895+40del) c.1820+39_1820+40del (n.1820+39_1820+40del) c.1817+39_1817+40del (n.1817+39_1817+40del) c.1805+39_1805+40del (n.1805+39_1805+40del) | gnomAD v4 |
| 11 | g.22263083C>A | CA5923393 | ANO5 | c.1448+40C>A (n.1448+40C>A) c.1856+40C>A (n.1856+40C>A) n.2892+40C>A c.1853+40C>A (n.1853+40C>A) c.1898+40C>A (n.1898+40C>A) n.2233+40C>A c.1895+40C>A (n.1895+40C>A) c.1820+40C>A (n.1820+40C>A) c.1817+40C>A (n.1817+40C>A) c.1805+40C>A (n.1805+40C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22263083C= | CA1957420241 | ANO5 | c.1448+40C= (n.1448+40C=) c.1856+40C= (n.1856+40C=) n.2892+40C= c.1853+40C= (n.1853+40C=) c.1898+40C= (n.1898+40C=) n.2233+40C= c.1895+40C= (n.1895+40C=) c.1820+40C= (n.1820+40C=) c.1817+40C= (n.1817+40C=) c.1805+40C= (n.1805+40C=) |