Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22270317C>ACA379923235ANO5c.1454C>A (p.Ala485Asp)
c.1862C>A (p.Ala621Asp)
n.2898C>A
c.1859C>A (p.Ala620Asp)
c.1904C>A (p.Ala635Asp)
n.2239C>A
c.1901C>A (p.Ala634Asp)
c.1826C>A (p.Ala609Asp)
c.1823C>A (p.Ala608Asp)
c.1811C>A (p.Ala604Asp)
 gnomAD v4
11g.22270317C=CA1957424060ANO5c.1454C= (p.Ala485=)
c.1862C= (p.Ala621=)
n.2898C=
c.1859C= (p.Ala620=)
c.1904C= (p.Ala635=)
n.2239C=
c.1901C= (p.Ala634=)
c.1826C= (p.Ala609=)
c.1823C= (p.Ala608=)
c.1811C= (p.Ala604=)
11g.22270317C>GCA379923236ANO5c.1454C>G (p.Ala485Gly)
c.1862C>G (p.Ala621Gly)
n.2898C>G
c.1859C>G (p.Ala620Gly)
c.1904C>G (p.Ala635Gly)
n.2239C>G
c.1901C>G (p.Ala634Gly)
c.1826C>G (p.Ala609Gly)
c.1823C>G (p.Ala608Gly)
c.1811C>G (p.Ala604Gly)
11g.22270317C>TCA5923405ANO5c.1454C>T (p.Ala485Val)
c.1862C>T (p.Ala621Val)
n.2898C>T
c.1859C>T (p.Ala620Val)
c.1904C>T (p.Ala635Val)
n.2239C>T
c.1901C>T (p.Ala634Val)
c.1826C>T (p.Ala609Val)
c.1823C>T (p.Ala608Val)
c.1811C>T (p.Ala604Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22270318T>ACA473407385ANO5c.1455T>A (p.Ala485=)
c.1863T>A (p.Ala621=)
n.2899T>A
c.1860T>A (p.Ala620=)
c.1905T>A (p.Ala635=)
n.2240T>A
c.1902T>A (p.Ala634=)
c.1827T>A (p.Ala609=)
c.1824T>A (p.Ala608=)
c.1812T>A (p.Ala604=)
11g.22270318T>CCA473407386ANO5c.1455T>C (p.Ala485=)
c.1863T>C (p.Ala621=)
n.2899T>C
c.1860T>C (p.Ala620=)
c.1905T>C (p.Ala635=)
n.2240T>C
c.1902T>C (p.Ala634=)
c.1827T>C (p.Ala609=)
c.1824T>C (p.Ala608=)
c.1812T>C (p.Ala604=)
11g.22270318T>GCA473407387ANO5c.1455T>G (p.Ala485=)
c.1863T>G (p.Ala621=)
n.2899T>G
c.1860T>G (p.Ala620=)
c.1905T>G (p.Ala635=)
n.2240T>G
c.1902T>G (p.Ala634=)
c.1827T>G (p.Ala609=)
c.1824T>G (p.Ala608=)
c.1812T>G (p.Ala604=)
11g.22270319T>ACA379923237ANO5c.1456T>A (p.Leu486Met)
c.1864T>A (p.Leu622Met)
n.2900T>A
c.1861T>A (p.Leu621Met)
c.1906T>A (p.Leu636Met)
n.2241T>A
c.1903T>A (p.Leu635Met)
c.1828T>A (p.Leu610Met)
c.1825T>A (p.Leu609Met)
c.1813T>A (p.Leu605Met)
11g.22270319T>CCA473407388ANO5c.1456T>C (p.Leu486=)
c.1864T>C (p.Leu622=)
n.2900T>C
c.1861T>C (p.Leu621=)
c.1906T>C (p.Leu636=)
n.2241T>C
c.1903T>C (p.Leu635=)
c.1828T>C (p.Leu610=)
c.1825T>C (p.Leu609=)
c.1813T>C (p.Leu605=)
11g.22270319T>GCA379923238ANO5c.1456T>G (p.Leu486Val)
c.1864T>G (p.Leu622Val)
n.2900T>G
c.1861T>G (p.Leu621Val)
c.1906T>G (p.Leu636Val)
n.2241T>G
c.1903T>G (p.Leu635Val)
c.1828T>G (p.Leu610Val)
c.1825T>G (p.Leu609Val)
c.1813T>G (p.Leu605Val)
11g.22270320T>ACA379923239ANO5c.1457T>A (p.Leu486Ter)
c.1865T>A (p.Leu622Ter)
n.2901T>A
c.1862T>A (p.Leu621Ter)
c.1907T>A (p.Leu636Ter)
n.2242T>A
c.1904T>A (p.Leu635Ter)
c.1829T>A (p.Leu610Ter)
c.1826T>A (p.Leu609Ter)
c.1814T>A (p.Leu605Ter)
11g.22270320T>CCA379923240ANO5c.1457T>C (p.Leu486Ser)
c.1865T>C (p.Leu622Ser)
n.2901T>C
c.1862T>C (p.Leu621Ser)
c.1907T>C (p.Leu636Ser)
n.2242T>C
c.1904T>C (p.Leu635Ser)
c.1829T>C (p.Leu610Ser)
c.1826T>C (p.Leu609Ser)
c.1814T>C (p.Leu605Ser)
11g.22270320T>GCA379923241ANO5c.1457T>G (p.Leu486Trp)
c.1865T>G (p.Leu622Trp)
n.2901T>G
c.1862T>G (p.Leu621Trp)
c.1907T>G (p.Leu636Trp)
n.2242T>G
c.1904T>G (p.Leu635Trp)
c.1829T>G (p.Leu610Trp)
c.1826T>G (p.Leu609Trp)
c.1814T>G (p.Leu605Trp)
11g.22270321G>ACA473407389ANO5c.1458G>A (p.Leu486=)
c.1866G>A (p.Leu622=)
n.2902G>A
c.1863G>A (p.Leu621=)
c.1908G>A (p.Leu636=)
n.2243G>A
c.1905G>A (p.Leu635=)
c.1830G>A (p.Leu610=)
c.1827G>A (p.Leu609=)
c.1815G>A (p.Leu605=)
11g.22270321G>CCA379923242ANO5c.1458G>C (p.Leu486Phe)
c.1866G>C (p.Leu622Phe)
n.2902G>C
c.1863G>C (p.Leu621Phe)
c.1908G>C (p.Leu636Phe)
n.2243G>C
c.1905G>C (p.Leu635Phe)
c.1830G>C (p.Leu610Phe)
c.1827G>C (p.Leu609Phe)
c.1815G>C (p.Leu605Phe)
 ClinVar
11g.22270321G=CA1957424061ANO5c.1458G= (p.Leu486=)
c.1866G= (p.Leu622=)
n.2902G=
c.1863G= (p.Leu621=)
c.1908G= (p.Leu636=)
n.2243G=
c.1905G= (p.Leu635=)
c.1830G= (p.Leu610=)
c.1827G= (p.Leu609=)
c.1815G= (p.Leu605=)
11g.22270321G>TCA379923243ANO5c.1458G>T (p.Leu486Phe)
c.1866G>T (p.Leu622Phe)
n.2902G>T
c.1863G>T (p.Leu621Phe)
c.1908G>T (p.Leu636Phe)
n.2243G>T
c.1905G>T (p.Leu635Phe)
c.1830G>T (p.Leu610Phe)
c.1827G>T (p.Leu609Phe)
c.1815G>T (p.Leu605Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22270322A>CCA379923244ANO5c.1459A>C (p.Asn487His)
c.1867A>C (p.Asn623His)
n.2903A>C
c.1864A>C (p.Asn622His)
c.1909A>C (p.Asn637His)
n.2244A>C
c.1906A>C (p.Asn636His)
c.1831A>C (p.Asn611His)
c.1828A>C (p.Asn610His)
c.1816A>C (p.Asn606His)
11g.22270322A>GCA379923245ANO5c.1459A>G (p.Asn487Asp)
c.1867A>G (p.Asn623Asp)
n.2903A>G
c.1864A>G (p.Asn622Asp)
c.1909A>G (p.Asn637Asp)
n.2244A>G
c.1906A>G (p.Asn636Asp)
c.1831A>G (p.Asn611Asp)
c.1828A>G (p.Asn610Asp)
c.1816A>G (p.Asn606Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.22270322A>TCA379923246ANO5c.1459A>T (p.Asn487Tyr)
c.1867A>T (p.Asn623Tyr)
n.2903A>T
c.1864A>T (p.Asn622Tyr)
c.1909A>T (p.Asn637Tyr)
n.2244A>T
c.1906A>T (p.Asn636Tyr)
c.1831A>T (p.Asn611Tyr)
c.1828A>T (p.Asn610Tyr)
c.1816A>T (p.Asn606Tyr)
11g.22270323A>CCA379923247ANO5c.1460A>C (p.Asn487Thr)
c.1868A>C (p.Asn623Thr)
n.2904A>C
c.1865A>C (p.Asn622Thr)
c.1910A>C (p.Asn637Thr)
n.2245A>C
c.1907A>C (p.Asn636Thr)
c.1832A>C (p.Asn611Thr)
c.1829A>C (p.Asn610Thr)
c.1817A>C (p.Asn606Thr)
11g.22270323A>GCA379923248ANO5c.1460A>G (p.Asn487Ser)
c.1868A>G (p.Asn623Ser)
n.2904A>G
c.1865A>G (p.Asn622Ser)
c.1910A>G (p.Asn637Ser)
n.2245A>G
c.1907A>G (p.Asn636Ser)
c.1832A>G (p.Asn611Ser)
c.1829A>G (p.Asn610Ser)
c.1817A>G (p.Asn606Ser)
11g.22270323A>TCA379923249ANO5c.1460A>T (p.Asn487Ile)
c.1868A>T (p.Asn623Ile)
n.2904A>T
c.1865A>T (p.Asn622Ile)
c.1910A>T (p.Asn637Ile)
n.2245A>T
c.1907A>T (p.Asn636Ile)
c.1832A>T (p.Asn611Ile)
c.1829A>T (p.Asn610Ile)
c.1817A>T (p.Asn606Ile)
11g.22270324T>ACA379923250ANO5c.1461T>A (p.Asn487Lys)
c.1869T>A (p.Asn623Lys)
n.2905T>A
c.1866T>A (p.Asn622Lys)
c.1911T>A (p.Asn637Lys)
n.2246T>A
c.1908T>A (p.Asn636Lys)
c.1833T>A (p.Asn611Lys)
c.1830T>A (p.Asn610Lys)
c.1818T>A (p.Asn606Lys)
11g.22270324T>CCA473407390ANO5c.1461T>C (p.Asn487=)
c.1869T>C (p.Asn623=)
n.2905T>C
c.1866T>C (p.Asn622=)
c.1911T>C (p.Asn637=)
n.2246T>C
c.1908T>C (p.Asn636=)
c.1833T>C (p.Asn611=)
c.1830T>C (p.Asn610=)
c.1818T>C (p.Asn606=)
11g.22270324T>GCA379923251ANO5c.1461T>G (p.Asn487Lys)
c.1869T>G (p.Asn623Lys)
n.2905T>G
c.1866T>G (p.Asn622Lys)
c.1911T>G (p.Asn637Lys)
n.2246T>G
c.1908T>G (p.Asn636Lys)
c.1833T>G (p.Asn611Lys)
c.1830T>G (p.Asn610Lys)
c.1818T>G (p.Asn606Lys)
11g.22270325dupCA2612836908ANO5c.1462dup (p.Trp488LeufsTer12)
c.1870dup (p.Trp624LeufsTer12)
n.2906dup
c.1867dup (p.Trp623LeufsTer12)
c.1912dup (p.Trp638LeufsTer12)
n.2247dup
c.1909dup (p.Trp637LeufsTer12)
c.1834dup (p.Trp612LeufsTer12)
c.1831dup (p.Trp611LeufsTer12)
c.1819dup (p.Trp607LeufsTer12)
 gnomAD v4
11g.22270324_22270327delinsTTGGCA1957424062ANO5c.1461_1464delinsTTGG (p.Asn487=)
c.1869_1872delinsTTGG (p.Asn623=)
n.2905_2908delinsTTGG
c.1866_1869delinsTTGG (p.Asn622=)
c.1911_1914delinsTTGG (p.Asn637=)
n.2246_2249delinsTTGG
c.1908_1911delinsTTGG (p.Asn636=)
c.1833_1836delinsTTGG (p.Asn611=)
c.1830_1833delinsTTGG (p.Asn610=)
c.1818_1821delinsTTGG (p.Asn606=)
11g.22270325T>ACA379923252ANO5c.1462T>A (p.Trp488Arg)
c.1870T>A (p.Trp624Arg)
n.2906T>A
c.1867T>A (p.Trp623Arg)
c.1912T>A (p.Trp638Arg)
n.2247T>A
c.1909T>A (p.Trp637Arg)
c.1834T>A (p.Trp612Arg)
c.1831T>A (p.Trp611Arg)
c.1819T>A (p.Trp607Arg)
11g.22270325T>CCA379923254ANO5c.1462T>C (p.Trp488Arg)
c.1870T>C (p.Trp624Arg)
n.2906T>C
c.1867T>C (p.Trp623Arg)
c.1912T>C (p.Trp638Arg)
n.2247T>C
c.1909T>C (p.Trp637Arg)
c.1834T>C (p.Trp612Arg)
c.1831T>C (p.Trp611Arg)
c.1819T>C (p.Trp607Arg)
 gnomAD v4
11g.22270325T>GCA379923253ANO5c.1462T>G (p.Trp488Gly)
c.1870T>G (p.Trp624Gly)
n.2906T>G
c.1867T>G (p.Trp623Gly)
c.1912T>G (p.Trp638Gly)
n.2247T>G
c.1909T>G (p.Trp637Gly)
c.1834T>G (p.Trp612Gly)
c.1831T>G (p.Trp611Gly)
c.1819T>G (p.Trp607Gly)
11g.22270328_22270330delCA10605609ANO5c.1465_1467del (p.Trp489del)
c.1873_1875del (p.Trp625del)
n.2909_2911del
c.1870_1872del (p.Trp624del)
c.1915_1917del (p.Trp639del)
n.2250_2252del
c.1912_1914del (p.Trp638del)
c.1837_1839del (p.Trp613del)
c.1834_1836del (p.Trp612del)
c.1822_1824del (p.Trp608del)
 ClinVar dbSNP
11g.22270326G>ACA379923255ANO5c.1463G>A (p.Trp488Ter)
c.1871G>A (p.Trp624Ter)
n.2907G>A
c.1868G>A (p.Trp623Ter)
c.1913G>A (p.Trp638Ter)
n.2248G>A
c.1910G>A (p.Trp637Ter)
c.1835G>A (p.Trp612Ter)
c.1832G>A (p.Trp611Ter)
c.1820G>A (p.Trp607Ter)
11g.22270326G>CCA379923256ANO5c.1463G>C (p.Trp488Ser)
c.1871G>C (p.Trp624Ser)
n.2907G>C
c.1868G>C (p.Trp623Ser)
c.1913G>C (p.Trp638Ser)
n.2248G>C
c.1910G>C (p.Trp637Ser)
c.1835G>C (p.Trp612Ser)
c.1832G>C (p.Trp611Ser)
c.1820G>C (p.Trp607Ser)
11g.22270326G>TCA379923257ANO5c.1463G>T (p.Trp488Leu)
c.1871G>T (p.Trp624Leu)
n.2907G>T
c.1868G>T (p.Trp623Leu)
c.1913G>T (p.Trp638Leu)
n.2248G>T
c.1910G>T (p.Trp637Leu)
c.1835G>T (p.Trp612Leu)
c.1832G>T (p.Trp611Leu)
c.1820G>T (p.Trp607Leu)
11g.22270327G>ACA379923258ANO5c.1464G>A (p.Trp488Ter)
c.1872G>A (p.Trp624Ter)
n.2908G>A
c.1869G>A (p.Trp623Ter)
c.1914G>A (p.Trp638Ter)
n.2249G>A
c.1911G>A (p.Trp637Ter)
c.1836G>A (p.Trp612Ter)
c.1833G>A (p.Trp611Ter)
c.1821G>A (p.Trp607Ter)
 gnomAD v4
11g.22270327G>CCA379923259ANO5c.1464G>C (p.Trp488Cys)
c.1872G>C (p.Trp624Cys)
n.2908G>C
c.1869G>C (p.Trp623Cys)
c.1914G>C (p.Trp638Cys)
n.2249G>C
c.1911G>C (p.Trp637Cys)
c.1836G>C (p.Trp612Cys)
c.1833G>C (p.Trp611Cys)
c.1821G>C (p.Trp607Cys)
11g.22270327G>TCA379923260ANO5c.1464G>T (p.Trp488Cys)
c.1872G>T (p.Trp624Cys)
n.2908G>T
c.1869G>T (p.Trp623Cys)
c.1914G>T (p.Trp638Cys)
n.2249G>T
c.1911G>T (p.Trp637Cys)
c.1836G>T (p.Trp612Cys)
c.1833G>T (p.Trp611Cys)
c.1821G>T (p.Trp607Cys)
 gnomAD v4 COSMIC
11g.22270328T>ACA379923261ANO5c.1465T>A (p.Trp489Arg)
c.1873T>A (p.Trp625Arg)
n.2909T>A
c.1870T>A (p.Trp624Arg)
c.1915T>A (p.Trp639Arg)
n.2250T>A
c.1912T>A (p.Trp638Arg)
c.1837T>A (p.Trp613Arg)
c.1834T>A (p.Trp612Arg)
c.1822T>A (p.Trp608Arg)
11g.22270328T>CCA218774123ANO5c.1465T>C (p.Trp489Arg)
c.1873T>C (p.Trp625Arg)
n.2909T>C
c.1870T>C (p.Trp624Arg)
c.1915T>C (p.Trp639Arg)
n.2250T>C
c.1912T>C (p.Trp638Arg)
c.1837T>C (p.Trp613Arg)
c.1834T>C (p.Trp612Arg)
c.1822T>C (p.Trp608Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22270328T>GCA379923262ANO5c.1465T>G (p.Trp489Gly)
c.1873T>G (p.Trp625Gly)
n.2909T>G
c.1870T>G (p.Trp624Gly)
c.1915T>G (p.Trp639Gly)
n.2250T>G
c.1912T>G (p.Trp638Gly)
c.1837T>G (p.Trp613Gly)
c.1834T>G (p.Trp612Gly)
c.1822T>G (p.Trp608Gly)
11g.22270328T=CA1957424063ANO5c.1465T= (p.Trp489=)
c.1873T= (p.Trp625=)
n.2909T=
c.1870T= (p.Trp624=)
c.1915T= (p.Trp639=)
n.2250T=
c.1912T= (p.Trp638=)
c.1837T= (p.Trp613=)
c.1834T= (p.Trp612=)
c.1822T= (p.Trp608=)
11g.22270329G>ACA379923265ANO5c.1466G>A (p.Trp489Ter)
c.1874G>A (p.Trp625Ter)
n.2910G>A
c.1871G>A (p.Trp624Ter)
c.1916G>A (p.Trp639Ter)
n.2251G>A
c.1913G>A (p.Trp638Ter)
c.1838G>A (p.Trp613Ter)
c.1835G>A (p.Trp612Ter)
c.1823G>A (p.Trp608Ter)
11g.22270329G>CCA379923264ANO5c.1466G>C (p.Trp489Ser)
c.1874G>C (p.Trp625Ser)
n.2910G>C
c.1871G>C (p.Trp624Ser)
c.1916G>C (p.Trp639Ser)
n.2251G>C
c.1913G>C (p.Trp638Ser)
c.1838G>C (p.Trp613Ser)
c.1835G>C (p.Trp612Ser)
c.1823G>C (p.Trp608Ser)
11g.22270329G>TCA379923263ANO5c.1466G>T (p.Trp489Leu)
c.1874G>T (p.Trp625Leu)
n.2910G>T
c.1871G>T (p.Trp624Leu)
c.1916G>T (p.Trp639Leu)
n.2251G>T
c.1913G>T (p.Trp638Leu)
c.1838G>T (p.Trp613Leu)
c.1835G>T (p.Trp612Leu)
c.1823G>T (p.Trp608Leu)
11g.22270330G>ACA379923268ANO5c.1467G>A (p.Trp489Ter)
c.1875G>A (p.Trp625Ter)
n.2911G>A
c.1872G>A (p.Trp624Ter)
c.1917G>A (p.Trp639Ter)
n.2252G>A
c.1914G>A (p.Trp638Ter)
c.1839G>A (p.Trp613Ter)
c.1836G>A (p.Trp612Ter)
c.1824G>A (p.Trp608Ter)
 gnomAD v4
11g.22270330G>CCA379923266ANO5c.1467G>C (p.Trp489Cys)
c.1875G>C (p.Trp625Cys)
n.2911G>C
c.1872G>C (p.Trp624Cys)
c.1917G>C (p.Trp639Cys)
n.2252G>C
c.1914G>C (p.Trp638Cys)
c.1839G>C (p.Trp613Cys)
c.1836G>C (p.Trp612Cys)
c.1824G>C (p.Trp608Cys)
11g.22270330G>TCA379923267ANO5c.1467G>T (p.Trp489Cys)
c.1875G>T (p.Trp625Cys)
n.2911G>T
c.1872G>T (p.Trp624Cys)
c.1917G>T (p.Trp639Cys)
n.2252G>T
c.1914G>T (p.Trp638Cys)
c.1839G>T (p.Trp613Cys)
c.1836G>T (p.Trp612Cys)
c.1824G>T (p.Trp608Cys)
11g.22270331A>CCA473407391ANO5c.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=)
11g.22270331A>GCA379923269ANO5c.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)
11g.22270331A>TCA379923270ANO5c.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)
11g.22270332G>ACA379923271ANO5c.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)
11g.22270332G>CCA379923272ANO5c.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
11g.22270332G=CA1957424064ANO5c.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=)
11g.22270332G>TCA379923273ANO5c.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)
11g.22270333A>CCA379923274ANO5c.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)
11g.22270333A>GCA473407392ANO5c.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
11g.22270333A>TCA379923275ANO5c.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
11g.22270334C>ACA379923276ANO5c.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
11g.22270334C=CA1957424065ANO5c.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=)
11g.22270334C>GCA379923277ANO5c.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)
11g.22270334C>TCA5923406ANO5c.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
11g.22270335G>ACA5923407ANO5c.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
11g.22270335G>CCA379923279ANO5c.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)
11g.22270335G=CA1957424066ANO5c.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=)
11g.22270335G>TCA379923278ANO5c.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
11g.22270336C>ACA473407393ANO5c.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=)
11g.22270336C=CA1957424067ANO5c.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=)
11g.22270336C>GCA473407394ANO5c.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
11g.22270336C>TCA473407395ANO5c.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
11g.22270337C>ACA473407396ANO5c.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=)
11g.22270337C=CA1957424068ANO5c.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=)
11g.22270337C>GCA5923408ANO5c.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
11g.22270337C>TCA5923409ANO5c.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
11g.22270338G>ACA5923410ANO5c.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
11g.22270338G>CCA379923280ANO5c.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
11g.22270338G=CA1957424069ANO5c.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=)
11g.22270338G>TCA379923281ANO5c.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
11g.22270339A=CA1957424070ANO5c.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=)
11g.22270339A>CCA473407397ANO5c.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=)
11g.22270339A>GCA473407398ANO5c.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
11g.22270339A>TCA473407399ANO5c.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=)
11g.22270342delCA2612836909ANO5c.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
11g.22270340A>CCA379923282ANO5c.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)
11g.22270340A>GCA379923283ANO5c.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)
11g.22270340A>TCA379923284ANO5c.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)
11g.22270341A>CCA379923285ANO5c.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)
11g.22270341A>GCA379923286ANO5c.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)
11g.22270341A>TCA379923287ANO5c.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)
11g.22270342A>CCA379923288ANO5c.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)
11g.22270342A>GCA473407400ANO5c.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=)
11g.22270342A>TCA379923289ANO5c.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)
11g.22270343G>ACA379923291ANO5c.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)
11g.22270343G>CCA379923292ANO5c.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
11g.22270343G=CA1957424071ANO5c.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=)
11g.22270343G>TCA379923290ANO5c.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
11g.22270344C>ACA379923293ANO5c.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)
11g.22270344C=CA1957424072ANO5c.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=)
11g.22270344C>GCA379923294ANO5c.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)
11g.22270344C>TCA379923295ANO5c.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
11g.22270345T>ACA473407402ANO5c.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=)
11g.22270345T>CCA473407404ANO5c.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=)
11g.22270345T>GCA473407403ANO5c.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=)
11g.22270346C>ACA473407405ANO5c.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=)
11g.22270346C=CA1957424073ANO5c.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=)
11g.22270346C>GCA379923296ANO5c.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
11g.22270346C>TCA5923411ANO5c.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
11g.22270347G>ACA5923412ANO5c.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
11g.22270347G>CCA379923298ANO5c.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)
11g.22270347G=CA1957424074ANO5c.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=)
11g.22270347G>TCA379923297ANO5c.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)
11g.22270348G>ACA473407406ANO5c.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=)
11g.22270348G>CCA473407407ANO5c.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=)
11g.22270348G>TCA473407408ANO5c.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=)
11g.22270349A=CA1957424075ANO5c.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=)
11g.22270349A>CCA379923299ANO5c.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)
11g.22270349A>GCA379923300ANO5c.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
11g.22270349A>TCA379923301ANO5c.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)
11g.22270350C>ACA379923302ANO5c.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
11g.22270350C>GCA379923303ANO5c.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
11g.22270350C>TCA379923304ANO5c.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)
11g.22270351A>CCA473407409ANO5c.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=)
11g.22270351A>GCA473407410ANO5c.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=)
11g.22270351A>TCA473407411ANO5c.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=)
11g.22270352A>CCA379923307ANO5c.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)
11g.22270352A>GCA379923305ANO5c.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)
11g.22270352A>TCA379923306ANO5c.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)
11g.22270353A>CCA379923308ANO5c.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)
11g.22270353A>GCA379923309ANO5c.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)
11g.22270353A>TCA379923310ANO5c.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)
11g.22270354C>ACA379923311ANO5c.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)
11g.22270354C=CA1957424076ANO5c.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=)
11g.22270354C>GCA379923312ANO5c.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)
11g.22270354C>TCA218774164ANO5c.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
11g.22270356_22270357delCA2612836910ANO5c.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
11g.22270355T>ACA379923313ANO5c.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)
11g.22270355T>CCA379923314ANO5c.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)
11g.22270355T>GCA379923315ANO5c.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)
11g.22270356C>ACA379923316ANO5c.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)
11g.22270356C=CA1957398903ANO5c.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=)
11g.22270356C>GCA218774172ANO5c.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
11g.22270356C>TCA379923317ANO5c.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
11g.22270356_22270358delinsCTGCA1957398906ANO5c.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=)
11g.22270357T>ACA473407412ANO5c.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=)
11g.22270357T>CCA473407413ANO5c.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
11g.22270357T>GCA473407414ANO5c.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=)
11g.22270357T=CA1957398919ANO5c.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=)
11g.22270357_22270358delCA597913006ANO5c.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
11g.22270358G>ACA379923318ANO5c.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)
11g.22270358G>CCA379923320ANO5c.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
11g.22270358G=CA1957398923ANO5c.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=)
11g.22270358G>TCA379923319ANO5c.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
11g.22270359A>CCA379923321ANO5c.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)
11g.22270359A>GCA379923322ANO5c.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)
11g.22270359A>TCA379923323ANO5c.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)
11g.22270360G>ACA473407415ANO5c.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=)
11g.22270360G>CCA379923324ANO5c.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)
11g.22270360G>TCA379923325ANO5c.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)
11g.22270361A>CCA379923326ANO5c.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)
11g.22270361A>GCA379923327ANO5c.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)
11g.22270361A>TCA379923328ANO5c.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)
11g.22270362A>CCA379923329ANO5c.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)
11g.22270362A>GCA379923330ANO5c.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
11g.22270362A>TCA379923331ANO5c.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)
11g.22270363G>ACA473407416ANO5c.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
11g.22270363G>CCA379923332ANO5c.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)
11g.22270363G=CA1957398926ANO5c.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=)
11g.22270363G>TCA379923333ANO5c.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)
11g.22270364C>ACA379923334ANO5c.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)
11g.22270364C=CA1957398929ANO5c.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=)
11g.22270364C>GCA379923335ANO5c.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)
11g.22270364C>TCA473407418ANO5c.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
11g.22270365T>ACA379923336ANO5c.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)
11g.22270365T>CCA379923337ANO5c.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
11g.22270365T>GCA379923338ANO5c.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)
11g.22270365T=CA1957398934ANO5c.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=)
11g.22270366G>ACA473407420ANO5c.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=)
11g.22270366G>CCA473407421ANO5c.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=)
11g.22270366G>TCA473407419ANO5c.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
11g.22270367T>ACA379923339ANO5c.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)
11g.22270367T>CCA379923340ANO5c.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)
11g.22270367T>GCA379923341ANO5c.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)
11g.22270368A=CA1957398942ANO5c.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=)
11g.22270368A>CCA379923342ANO5c.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)
11g.22270368A>GCA218774174ANO5c.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
11g.22270368A>TCA379923343ANO5c.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)
11g.22270369T>ACA379923344ANO5c.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)
11g.22270369T>CCA473407422ANO5c.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
11g.22270369T>GCA379923345ANO5c.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)
11g.22270369T=CA1957398945ANO5c.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=)
11g.22270370A=CA1957398952ANO5c.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=)
11g.22270370A>CCA379923347ANO5c.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)
11g.22270370A>GCA5923413ANO5c.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
11g.22270370A>TCA379923346ANO5c.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)
11g.22270371G>ACA379923349ANO5c.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
11g.22270371G>CCA379923348ANO5c.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)
11g.22270371G=CA1957398960ANO5c.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=)
11g.22270371G>TCA379923350ANO5c.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
11g.22270372T>ACA379923351ANO5c.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)
11g.22270372T>CCA473407423ANO5c.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=)
11g.22270372T>GCA379923352ANO5c.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
11g.22270373C>ACA473407424ANO5c.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=)
11g.22270373C=CA1957398965ANO5c.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=)
11g.22270373C>GCA379923353ANO5c.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)
11g.22270373C>TCA379923354ANO5c.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
11g.22270374G>ACA5923414ANO5c.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
11g.22270374G>CCA379923355ANO5c.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)
11g.22270374G=CA1957398970ANO5c.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=)
11g.22270374G>TCA379923356ANO5c.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
11g.22270375A=CA1957398976ANO5c.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=)
11g.22270375A>CCA473407425ANO5c.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=)
11g.22270375A>GCA16605884ANO5c.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
11g.22270375A>TCA473407426ANO5c.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=)
11g.22270376T>ACA379923357ANO5c.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
11g.22270376T>CCA218774184ANO5c.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
11g.22270376T>GCA379923358ANO5c.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)
11g.22270376T=CA1957398983ANO5c.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=)
11g.22270377G>ACA379923359ANO5c.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
11g.22270377G>CCA379923360ANO5c.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)
11g.22270377G>TCA379923361ANO5c.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)
11g.22270378G>ACA379923362ANO5c.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
11g.22270378G>CCA5923415ANO5c.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
11g.22270378G=CA1957398985ANO5c.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=)
11g.22270378G>TCA379923363ANO5c.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)
11g.22270379G>ACA379923364ANO5c.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
11g.22270379G>CCA10606004ANO5c.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
11g.22270379G=CA1957398989ANO5c.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=)
11g.22270379G>TCA379923365ANO5c.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)
11g.22270380A>CCA379923366ANO5c.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)
11g.22270380A>GCA379923367ANO5c.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)
11g.22270380A>TCA379923368ANO5c.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)
11g.22270381G>ACA473407427ANO5c.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
11g.22270381G>CCA379923369ANO5c.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)
11g.22270381G>TCA379923370ANO5c.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)
11g.22270382C>ACA379923371ANO5c.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)
11g.22270382C>GCA379923372ANO5c.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)
11g.22270382C>TCA379923373ANO5c.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
11g.22270383A=CA1957398991ANO5c.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=)
11g.22270383A>CCA379923376ANO5c.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)
11g.22270383A>GCA379923375ANO5c.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)
11g.22270383A>TCA379923374ANO5c.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
11g.22270384G>ACA473407428ANO5c.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
11g.22270384G>CCA379923378ANO5c.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)
11g.22270384G>TCA379923377ANO5c.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)
11g.22270385G>ACA379923379ANO5c.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
11g.22270385G>CCA379923380ANO5c.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)
11g.22270385G=CA1957398994ANO5c.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=)
11g.22270385G>TCA379923381ANO5c.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)
11g.22270386A>CCA379923382ANO5c.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)
11g.22270386A>GCA379923383ANO5c.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)
11g.22270386A>TCA379923384ANO5c.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)
11g.22270387T>ACA379923385ANO5c.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
11g.22270387T>CCA473407429ANO5c.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
11g.22270387T>GCA379923386ANO5c.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)
11g.22270388C>ACA379923387ANO5c.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
11g.22270388C=CA1957398997ANO5c.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=)
11g.22270388C>GCA379923388ANO5c.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
11g.22270388C>TCA379923389ANO5c.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)
11g.22270388dupCA2612836944ANO5c.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
11g.22270389A>CCA379923391ANO5c.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)
11g.22270389A>GCA379923392ANO5c.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)
11g.22270389A>TCA379923390ANO5c.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)
11g.22270390T>ACA379923393ANO5c.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)
11g.22270390T>CCA5923416ANO5c.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
11g.22270390T>GCA379923394ANO5c.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
11g.22270390T=CA1957399002ANO5c.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=)
11g.22270391G>ACA379923395ANO5c.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
11g.22270391G>CCA379923396ANO5c.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)
11g.22270391G>TCA379923397ANO5c.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
11g.22270392A=CA1957399007ANO5c.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=)
11g.22270392A>CCA379923398ANO5c.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)
11g.22270392A>GCA379923400ANO5c.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)
11g.22270392A>TCA379923399ANO5c.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
11g.22270393C>ACA379923401ANO5c.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
11g.22270393C=CA1957399008ANO5c.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=)
11g.22270393C>GCA379923402ANO5c.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)
11g.22270393C>TCA473407430ANO5c.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
11g.22270394C>ACA379923403ANO5c.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)
11g.22270394C=CA1957399018ANO5c.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=)
11g.22270394C>GCA379923404ANO5c.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)
11g.22270394C>TCA218774194ANO5c.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
11g.22270395T>ACA379923406ANO5c.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)
11g.22270395T>CCA379923407ANO5c.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
11g.22270395T>GCA379923405ANO5c.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)
11g.22270395T=CA1957399023ANO5c.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=)
11g.22270396delCA2612836956ANO5c.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
11g.22270396T>ACA218774196ANO5c.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
11g.22270396T>CCA473407431ANO5c.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=)
11g.22270396T>GCA473407432ANO5c.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=)
11g.22270396T=CA1957399027ANO5c.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=)
11g.22270397G>ACA379923408ANO5n.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
11g.22270397G>CCA379923409ANO5n.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
11g.22270397G=CA1957399031ANO5n.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=)
11g.22270397G>TCA379923410ANO5n.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)
11g.22270398A>CCA379923411ANO5n.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)
11g.22270398A>GCA379923412ANO5n.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
11g.22270398A>TCA379923413ANO5n.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)
11g.22270399A>CCA379923414ANO5n.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
11g.22270399A>GCA473407433ANO5n.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=)
11g.22270399A>TCA379923415ANO5n.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)
11g.22270400A=CA1957399034ANO5n.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=)
11g.22270400A>CCA379923416ANO5n.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)
11g.22270400A>GCA5923417ANO5n.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
11g.22270400A>TCA379923417ANO5n.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)
11g.22270401G>ACA379923420ANO5n.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)
11g.22270401G>CCA379923419ANO5n.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)
11g.22270401G=CA1957399038ANO5n.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=)
11g.22270401G>TCA379923418ANO5n.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)
11g.22270402T>ACA379923421ANO5n.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)
11g.22270402T>CCA5923418ANO5n.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
11g.22270402T>GCA379923422ANO5n.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)
11g.22270402T=CA1957399045ANO5n.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=)
11g.22270405dupCA10605612ANO5n.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
11g.22270403T>ACA379923423ANO5n.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)
11g.22270403T>CCA379923424ANO5n.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)
11g.22270403T>GCA379923425ANO5n.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
11g.22270404T>ACA379923426ANO5n.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
11g.22270404T>CCA379923427ANO5n.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)
11g.22270404T>GCA379923428ANO5n.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
11g.22270404_22270405insGGACCA218774209ANO5n.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)
11g.22270405T>ACA379923429ANO5n.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)
11g.22270405T>CCA473407434ANO5n.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
11g.22270405T>GCA379923430ANO5n.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
11g.22270405T=CA1957399052ANO5n.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=)
11g.22270406G>ACA379923433ANO5n.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)
11g.22270406G>CCA379923432ANO5n.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)
11g.22270406G>TCA379923431ANO5n.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)
11g.22270406_22270409dupCA5923419ANO5n.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
11g.22270407G>ACA379923434ANO5n.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
11g.22270407G>CCA379923435ANO5n.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)
11g.22270407G>TCA379923436ANO5n.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)
11g.22270408A=CA1957399057ANO5n.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=)
11g.22270408A>CCA473407435ANO5n.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=)
11g.22270408A>GCA473407436ANO5n.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
11g.22270408A>TCA473407437ANO5n.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=)
11g.22270417_22270418insTCCAAAAAACCCCTTGGGCA2612836967ANO5n.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
11g.22270409C>ACA379923437ANO5n.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
11g.22270409C=CA1957399062ANO5n.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=)
11g.22270409C>GCA379923438ANO5n.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)
11g.22270409C>TCA379923439ANO5n.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
11g.22270412dupCA2612836968ANO5n.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
11g.22270410C>ACA379923440ANO5n.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
11g.22270410C=CA1957399066ANO5n.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=)
11g.22270410C>GCA379923441ANO5n.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)
11g.22270410C>TCA379923442ANO5n.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)
11g.22270411C>ACA473407438ANO5n.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=)
11g.22270411C>GCA473407439ANO5n.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=)
11g.22270411C>TCA473407440ANO5n.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=)
11g.22270412C>ACA379923443ANO5n.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)
11g.22270412C>GCA379923444ANO5n.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
11g.22270412C>TCA379923445ANO5n.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)
11g.22270413T>ACA379923447ANO5n.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
11g.22270413T>CCA379923448ANO5n.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
11g.22270413T>GCA379923446ANO5n.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)
11g.22270413T=CA1957399071ANO5n.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=)
11g.22270414T>ACA473407441ANO5n.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=)
11g.22270414T>CCA473407442ANO5n.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=)
11g.22270414T>GCA473407443ANO5n.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=)
11g.22270414_22270415delinsTGCA1957399076ANO5n.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=)
11g.22270415G>ACA379923451ANO5n.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
11g.22270415G>CCA379923450ANO5n.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)
11g.22270415G>TCA379923449ANO5n.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)
11g.22270417delCA10605199ANO5n.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
11g.22270416G>ACA379923452ANO5n.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)
11g.22270416G>CCA379923453ANO5n.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)
11g.22270416G>TCA379923454ANO5n.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
11g.22270417G>ACA473407444ANO5n.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=)
11g.22270417G>CCA473407445ANO5n.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=)
11g.22270417G>TCA473407446ANO5n.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=)

Number of alleles fetched