Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.243426429C>ACA1483763SDCCAG8c.1856C>A (p.Ser619Tyr)
c.959C>A (p.Ser320Tyr)
n.63C>A
c.1727C>A (p.Ser576Tyr)
c.1433C>A (p.Ser478Tyr)
c.953C>A (p.Ser318Tyr)
c.935C>A (p.Ser312Tyr)
c.1886C>A (p.Ser629Tyr)
c.1757C>A (p.Ser586Tyr)
c.1697C>A (p.Ser566Tyr)
c.1982C>A (p.Ser661Tyr)
c.1952C>A (p.Ser651Tyr)
c.1793C>A (p.Ser598Tyr)
c.1745C>A (p.Ser582Tyr)
c.1568C>A (p.Ser523Tyr)
c.1520C>A (p.Ser507Tyr)
c.911C>A (p.Ser304Tyr)
n.2006C>A
c.1562C>A (p.Ser521Tyr)
c.1619C>A (p.Ser540Tyr)
c.1658C>A (p.Ser553Tyr)
c.1325C>A (p.Ser442Tyr)
n.1898C>A
n.1789C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426429C=CA1142082599SDCCAG8c.1856C= (p.Ser619=)
c.959C= (p.Ser320=)
n.63C=
c.1727C= (p.Ser576=)
c.1433C= (p.Ser478=)
c.953C= (p.Ser318=)
c.935C= (p.Ser312=)
c.1886C= (p.Ser629=)
c.1757C= (p.Ser586=)
c.1697C= (p.Ser566=)
c.1982C= (p.Ser661=)
c.1952C= (p.Ser651=)
c.1793C= (p.Ser598=)
c.1745C= (p.Ser582=)
c.1568C= (p.Ser523=)
c.1520C= (p.Ser507=)
c.911C= (p.Ser304=)
n.2006C=
c.1562C= (p.Ser521=)
c.1619C= (p.Ser540=)
c.1658C= (p.Ser553=)
c.1325C= (p.Ser442=)
n.1898C=
n.1789C=
1g.243426429C>GCA345667641SDCCAG8c.1856C>G (p.Ser619Cys)
c.959C>G (p.Ser320Cys)
n.63C>G
c.1727C>G (p.Ser576Cys)
c.1433C>G (p.Ser478Cys)
c.953C>G (p.Ser318Cys)
c.935C>G (p.Ser312Cys)
c.1886C>G (p.Ser629Cys)
c.1757C>G (p.Ser586Cys)
c.1697C>G (p.Ser566Cys)
c.1982C>G (p.Ser661Cys)
c.1952C>G (p.Ser651Cys)
c.1793C>G (p.Ser598Cys)
c.1745C>G (p.Ser582Cys)
c.1568C>G (p.Ser523Cys)
c.1520C>G (p.Ser507Cys)
c.911C>G (p.Ser304Cys)
n.2006C>G
c.1562C>G (p.Ser521Cys)
c.1619C>G (p.Ser540Cys)
c.1658C>G (p.Ser553Cys)
c.1325C>G (p.Ser442Cys)
n.1898C>G
n.1789C>G
1g.243426429C>TCA345667642SDCCAG8c.1856C>T (p.Ser619Phe)
c.959C>T (p.Ser320Phe)
n.63C>T
c.1727C>T (p.Ser576Phe)
c.1433C>T (p.Ser478Phe)
c.953C>T (p.Ser318Phe)
c.935C>T (p.Ser312Phe)
c.1886C>T (p.Ser629Phe)
c.1757C>T (p.Ser586Phe)
c.1697C>T (p.Ser566Phe)
c.1982C>T (p.Ser661Phe)
c.1952C>T (p.Ser651Phe)
c.1793C>T (p.Ser598Phe)
c.1745C>T (p.Ser582Phe)
c.1568C>T (p.Ser523Phe)
c.1520C>T (p.Ser507Phe)
c.911C>T (p.Ser304Phe)
n.2006C>T
c.1562C>T (p.Ser521Phe)
c.1619C>T (p.Ser540Phe)
c.1658C>T (p.Ser553Phe)
c.1325C>T (p.Ser442Phe)
n.1898C>T
n.1789C>T
1g.243426430T>ACA424346839SDCCAG8c.1857T>A (p.Ser619=)
c.960T>A (p.Ser320=)
n.64T>A
c.1728T>A (p.Ser576=)
c.1434T>A (p.Ser478=)
c.954T>A (p.Ser318=)
c.936T>A (p.Ser312=)
c.1887T>A (p.Ser629=)
c.1758T>A (p.Ser586=)
c.1698T>A (p.Ser566=)
c.1983T>A (p.Ser661=)
c.1953T>A (p.Ser651=)
c.1794T>A (p.Ser598=)
c.1746T>A (p.Ser582=)
c.1569T>A (p.Ser523=)
c.1521T>A (p.Ser507=)
c.912T>A (p.Ser304=)
n.2007T>A
c.1563T>A (p.Ser521=)
c.1620T>A (p.Ser540=)
c.1659T>A (p.Ser553=)
c.1326T>A (p.Ser442=)
n.1899T>A
n.1790T>A
1g.243426430T>CCA424346840SDCCAG8c.1857T>C (p.Ser619=)
c.960T>C (p.Ser320=)
n.64T>C
c.1728T>C (p.Ser576=)
c.1434T>C (p.Ser478=)
c.954T>C (p.Ser318=)
c.936T>C (p.Ser312=)
c.1887T>C (p.Ser629=)
c.1758T>C (p.Ser586=)
c.1698T>C (p.Ser566=)
c.1983T>C (p.Ser661=)
c.1953T>C (p.Ser651=)
c.1794T>C (p.Ser598=)
c.1746T>C (p.Ser582=)
c.1569T>C (p.Ser523=)
c.1521T>C (p.Ser507=)
c.912T>C (p.Ser304=)
n.2007T>C
c.1563T>C (p.Ser521=)
c.1620T>C (p.Ser540=)
c.1659T>C (p.Ser553=)
c.1326T>C (p.Ser442=)
n.1899T>C
n.1790T>C
 dbSNP gnomAD v2
1g.243426430T>GCA424346841SDCCAG8c.1857T>G (p.Ser619=)
c.960T>G (p.Ser320=)
n.64T>G
c.1728T>G (p.Ser576=)
c.1434T>G (p.Ser478=)
c.954T>G (p.Ser318=)
c.936T>G (p.Ser312=)
c.1887T>G (p.Ser629=)
c.1758T>G (p.Ser586=)
c.1698T>G (p.Ser566=)
c.1983T>G (p.Ser661=)
c.1953T>G (p.Ser651=)
c.1794T>G (p.Ser598=)
c.1746T>G (p.Ser582=)
c.1569T>G (p.Ser523=)
c.1521T>G (p.Ser507=)
c.912T>G (p.Ser304=)
n.2007T>G
c.1563T>G (p.Ser521=)
c.1620T>G (p.Ser540=)
c.1659T>G (p.Ser553=)
c.1326T>G (p.Ser442=)
n.1899T>G
n.1790T>G
 gnomAD v4
1g.243426430T=CA1230390587SDCCAG8c.1857T= (p.Ser619=)
c.960T= (p.Ser320=)
n.64T=
c.1728T= (p.Ser576=)
c.1434T= (p.Ser478=)
c.954T= (p.Ser318=)
c.936T= (p.Ser312=)
c.1887T= (p.Ser629=)
c.1758T= (p.Ser586=)
c.1698T= (p.Ser566=)
c.1983T= (p.Ser661=)
c.1953T= (p.Ser651=)
c.1794T= (p.Ser598=)
c.1746T= (p.Ser582=)
c.1569T= (p.Ser523=)
c.1521T= (p.Ser507=)
c.912T= (p.Ser304=)
n.2007T=
c.1563T= (p.Ser521=)
c.1620T= (p.Ser540=)
c.1659T= (p.Ser553=)
c.1326T= (p.Ser442=)
n.1899T=
n.1790T=
1g.243426431G>ACA345667643SDCCAG8c.1858G>A (p.Glu620Lys)
c.961G>A (p.Glu321Lys)
n.65G>A
c.1729G>A (p.Glu577Lys)
c.1435G>A (p.Glu479Lys)
c.955G>A (p.Glu319Lys)
c.937G>A (p.Glu313Lys)
c.1888G>A (p.Glu630Lys)
c.1759G>A (p.Glu587Lys)
c.1699G>A (p.Glu567Lys)
c.1984G>A (p.Glu662Lys)
c.1954G>A (p.Glu652Lys)
c.1795G>A (p.Glu599Lys)
c.1747G>A (p.Glu583Lys)
c.1570G>A (p.Glu524Lys)
c.1522G>A (p.Glu508Lys)
c.913G>A (p.Glu305Lys)
n.2008G>A
c.1564G>A (p.Glu522Lys)
c.1621G>A (p.Glu541Lys)
c.1660G>A (p.Glu554Lys)
c.1327G>A (p.Glu443Lys)
n.1900G>A
n.1791G>A
1g.243426431G>CCA345667644SDCCAG8c.1858G>C (p.Glu620Gln)
c.961G>C (p.Glu321Gln)
n.65G>C
c.1729G>C (p.Glu577Gln)
c.1435G>C (p.Glu479Gln)
c.955G>C (p.Glu319Gln)
c.937G>C (p.Glu313Gln)
c.1888G>C (p.Glu630Gln)
c.1759G>C (p.Glu587Gln)
c.1699G>C (p.Glu567Gln)
c.1984G>C (p.Glu662Gln)
c.1954G>C (p.Glu652Gln)
c.1795G>C (p.Glu599Gln)
c.1747G>C (p.Glu583Gln)
c.1570G>C (p.Glu524Gln)
c.1522G>C (p.Glu508Gln)
c.913G>C (p.Glu305Gln)
n.2008G>C
c.1564G>C (p.Glu522Gln)
c.1621G>C (p.Glu541Gln)
c.1660G>C (p.Glu554Gln)
c.1327G>C (p.Glu443Gln)
n.1900G>C
n.1791G>C
1g.243426431G>TCA345667645SDCCAG8c.1858G>T (p.Glu620Ter)
c.961G>T (p.Glu321Ter)
n.65G>T
c.1729G>T (p.Glu577Ter)
c.1435G>T (p.Glu479Ter)
c.955G>T (p.Glu319Ter)
c.937G>T (p.Glu313Ter)
c.1888G>T (p.Glu630Ter)
c.1759G>T (p.Glu587Ter)
c.1699G>T (p.Glu567Ter)
c.1984G>T (p.Glu662Ter)
c.1954G>T (p.Glu652Ter)
c.1795G>T (p.Glu599Ter)
c.1747G>T (p.Glu583Ter)
c.1570G>T (p.Glu524Ter)
c.1522G>T (p.Glu508Ter)
c.913G>T (p.Glu305Ter)
n.2008G>T
c.1564G>T (p.Glu522Ter)
c.1621G>T (p.Glu541Ter)
c.1660G>T (p.Glu554Ter)
c.1327G>T (p.Glu443Ter)
n.1900G>T
n.1791G>T
1g.243426432A=CA1230390588SDCCAG8c.1859A= (p.Glu620=)
c.962A= (p.Glu321=)
n.66A=
c.1730A= (p.Glu577=)
c.1436A= (p.Glu479=)
c.956A= (p.Glu319=)
c.938A= (p.Glu313=)
c.1889A= (p.Glu630=)
c.1760A= (p.Glu587=)
c.1700A= (p.Glu567=)
c.1985A= (p.Glu662=)
c.1955A= (p.Glu652=)
c.1796A= (p.Glu599=)
c.1748A= (p.Glu583=)
c.1571A= (p.Glu524=)
c.1523A= (p.Glu508=)
c.914A= (p.Glu305=)
n.2009A=
c.1565A= (p.Glu522=)
c.1622A= (p.Glu541=)
c.1661A= (p.Glu554=)
c.1328A= (p.Glu443=)
n.1901A=
n.1792A=
1g.243426432A>CCA345667646SDCCAG8c.1859A>C (p.Glu620Ala)
c.962A>C (p.Glu321Ala)
n.66A>C
c.1730A>C (p.Glu577Ala)
c.1436A>C (p.Glu479Ala)
c.956A>C (p.Glu319Ala)
c.938A>C (p.Glu313Ala)
c.1889A>C (p.Glu630Ala)
c.1760A>C (p.Glu587Ala)
c.1700A>C (p.Glu567Ala)
c.1985A>C (p.Glu662Ala)
c.1955A>C (p.Glu652Ala)
c.1796A>C (p.Glu599Ala)
c.1748A>C (p.Glu583Ala)
c.1571A>C (p.Glu524Ala)
c.1523A>C (p.Glu508Ala)
c.914A>C (p.Glu305Ala)
n.2009A>C
c.1565A>C (p.Glu522Ala)
c.1622A>C (p.Glu541Ala)
c.1661A>C (p.Glu554Ala)
c.1328A>C (p.Glu443Ala)
n.1901A>C
n.1792A>C
1g.243426432A>GCA345667647SDCCAG8c.1859A>G (p.Glu620Gly)
c.962A>G (p.Glu321Gly)
n.66A>G
c.1730A>G (p.Glu577Gly)
c.1436A>G (p.Glu479Gly)
c.956A>G (p.Glu319Gly)
c.938A>G (p.Glu313Gly)
c.1889A>G (p.Glu630Gly)
c.1760A>G (p.Glu587Gly)
c.1700A>G (p.Glu567Gly)
c.1985A>G (p.Glu662Gly)
c.1955A>G (p.Glu652Gly)
c.1796A>G (p.Glu599Gly)
c.1748A>G (p.Glu583Gly)
c.1571A>G (p.Glu524Gly)
c.1523A>G (p.Glu508Gly)
c.914A>G (p.Glu305Gly)
n.2009A>G
c.1565A>G (p.Glu522Gly)
c.1622A>G (p.Glu541Gly)
c.1661A>G (p.Glu554Gly)
c.1328A>G (p.Glu443Gly)
n.1901A>G
n.1792A>G
 dbSNP
1g.243426432A>TCA345667648SDCCAG8c.1859A>T (p.Glu620Val)
c.962A>T (p.Glu321Val)
n.66A>T
c.1730A>T (p.Glu577Val)
c.1436A>T (p.Glu479Val)
c.956A>T (p.Glu319Val)
c.938A>T (p.Glu313Val)
c.1889A>T (p.Glu630Val)
c.1760A>T (p.Glu587Val)
c.1700A>T (p.Glu567Val)
c.1985A>T (p.Glu662Val)
c.1955A>T (p.Glu652Val)
c.1796A>T (p.Glu599Val)
c.1748A>T (p.Glu583Val)
c.1571A>T (p.Glu524Val)
c.1523A>T (p.Glu508Val)
c.914A>T (p.Glu305Val)
n.2009A>T
c.1565A>T (p.Glu522Val)
c.1622A>T (p.Glu541Val)
c.1661A>T (p.Glu554Val)
c.1328A>T (p.Glu443Val)
n.1901A>T
n.1792A>T
1g.243426433A>CCA345667649SDCCAG8c.1860A>C (p.Glu620Asp)
c.963A>C (p.Glu321Asp)
n.67A>C
c.1731A>C (p.Glu577Asp)
c.1437A>C (p.Glu479Asp)
c.957A>C (p.Glu319Asp)
c.939A>C (p.Glu313Asp)
c.1890A>C (p.Glu630Asp)
c.1761A>C (p.Glu587Asp)
c.1701A>C (p.Glu567Asp)
c.1986A>C (p.Glu662Asp)
c.1956A>C (p.Glu652Asp)
c.1797A>C (p.Glu599Asp)
c.1749A>C (p.Glu583Asp)
c.1572A>C (p.Glu524Asp)
c.1524A>C (p.Glu508Asp)
c.915A>C (p.Glu305Asp)
n.2010A>C
c.1566A>C (p.Glu522Asp)
c.1623A>C (p.Glu541Asp)
c.1662A>C (p.Glu554Asp)
c.1329A>C (p.Glu443Asp)
n.1902A>C
n.1793A>C
1g.243426433A>GCA424346842SDCCAG8c.1860A>G (p.Glu620=)
c.963A>G (p.Glu321=)
n.67A>G
c.1731A>G (p.Glu577=)
c.1437A>G (p.Glu479=)
c.957A>G (p.Glu319=)
c.939A>G (p.Glu313=)
c.1890A>G (p.Glu630=)
c.1761A>G (p.Glu587=)
c.1701A>G (p.Glu567=)
c.1986A>G (p.Glu662=)
c.1956A>G (p.Glu652=)
c.1797A>G (p.Glu599=)
c.1749A>G (p.Glu583=)
c.1572A>G (p.Glu524=)
c.1524A>G (p.Glu508=)
c.915A>G (p.Glu305=)
n.2010A>G
c.1566A>G (p.Glu522=)
c.1623A>G (p.Glu541=)
c.1662A>G (p.Glu554=)
c.1329A>G (p.Glu443=)
n.1902A>G
n.1793A>G
1g.243426433A>TCA345667650SDCCAG8c.1860A>T (p.Glu620Asp)
c.963A>T (p.Glu321Asp)
n.67A>T
c.1731A>T (p.Glu577Asp)
c.1437A>T (p.Glu479Asp)
c.957A>T (p.Glu319Asp)
c.939A>T (p.Glu313Asp)
c.1890A>T (p.Glu630Asp)
c.1761A>T (p.Glu587Asp)
c.1701A>T (p.Glu567Asp)
c.1986A>T (p.Glu662Asp)
c.1956A>T (p.Glu652Asp)
c.1797A>T (p.Glu599Asp)
c.1749A>T (p.Glu583Asp)
c.1572A>T (p.Glu524Asp)
c.1524A>T (p.Glu508Asp)
c.915A>T (p.Glu305Asp)
n.2010A>T
c.1566A>T (p.Glu522Asp)
c.1623A>T (p.Glu541Asp)
c.1662A>T (p.Glu554Asp)
c.1329A>T (p.Glu443Asp)
n.1902A>T
n.1793A>T
1g.243426434A>CCA345667653SDCCAG8c.1861A>C (p.Ile621Leu)
c.964A>C (p.Ile322Leu)
n.68A>C
c.1732A>C (p.Ile578Leu)
c.1438A>C (p.Ile480Leu)
c.958A>C (p.Ile320Leu)
c.940A>C (p.Ile314Leu)
c.1891A>C (p.Ile631Leu)
c.1762A>C (p.Ile588Leu)
c.1702A>C (p.Ile568Leu)
c.1987A>C (p.Ile663Leu)
c.1957A>C (p.Ile653Leu)
c.1798A>C (p.Ile600Leu)
c.1750A>C (p.Ile584Leu)
c.1573A>C (p.Ile525Leu)
c.1525A>C (p.Ile509Leu)
c.916A>C (p.Ile306Leu)
n.2011A>C
c.1567A>C (p.Ile523Leu)
c.1624A>C (p.Ile542Leu)
c.1663A>C (p.Ile555Leu)
c.1330A>C (p.Ile444Leu)
n.1903A>C
n.1794A>C
1g.243426434A>GCA345667652SDCCAG8c.1861A>G (p.Ile621Val)
c.964A>G (p.Ile322Val)
n.68A>G
c.1732A>G (p.Ile578Val)
c.1438A>G (p.Ile480Val)
c.958A>G (p.Ile320Val)
c.940A>G (p.Ile314Val)
c.1891A>G (p.Ile631Val)
c.1762A>G (p.Ile588Val)
c.1702A>G (p.Ile568Val)
c.1987A>G (p.Ile663Val)
c.1957A>G (p.Ile653Val)
c.1798A>G (p.Ile600Val)
c.1750A>G (p.Ile584Val)
c.1573A>G (p.Ile525Val)
c.1525A>G (p.Ile509Val)
c.916A>G (p.Ile306Val)
n.2011A>G
c.1567A>G (p.Ile523Val)
c.1624A>G (p.Ile542Val)
c.1663A>G (p.Ile555Val)
c.1330A>G (p.Ile444Val)
n.1903A>G
n.1794A>G
1g.243426434A>TCA345667651SDCCAG8c.1861A>T (p.Ile621Leu)
c.964A>T (p.Ile322Leu)
n.68A>T
c.1732A>T (p.Ile578Leu)
c.1438A>T (p.Ile480Leu)
c.958A>T (p.Ile320Leu)
c.940A>T (p.Ile314Leu)
c.1891A>T (p.Ile631Leu)
c.1762A>T (p.Ile588Leu)
c.1702A>T (p.Ile568Leu)
c.1987A>T (p.Ile663Leu)
c.1957A>T (p.Ile653Leu)
c.1798A>T (p.Ile600Leu)
c.1750A>T (p.Ile584Leu)
c.1573A>T (p.Ile525Leu)
c.1525A>T (p.Ile509Leu)
c.916A>T (p.Ile306Leu)
n.2011A>T
c.1567A>T (p.Ile523Leu)
c.1624A>T (p.Ile542Leu)
c.1663A>T (p.Ile555Leu)
c.1330A>T (p.Ile444Leu)
n.1903A>T
n.1794A>T
1g.243426435T>ACA345667654SDCCAG8c.1862T>A (p.Ile621Lys)
c.965T>A (p.Ile322Lys)
n.69T>A
c.1733T>A (p.Ile578Lys)
c.1439T>A (p.Ile480Lys)
c.959T>A (p.Ile320Lys)
c.941T>A (p.Ile314Lys)
c.1892T>A (p.Ile631Lys)
c.1763T>A (p.Ile588Lys)
c.1703T>A (p.Ile568Lys)
c.1988T>A (p.Ile663Lys)
c.1958T>A (p.Ile653Lys)
c.1799T>A (p.Ile600Lys)
c.1751T>A (p.Ile584Lys)
c.1574T>A (p.Ile525Lys)
c.1526T>A (p.Ile509Lys)
c.917T>A (p.Ile306Lys)
n.2012T>A
c.1568T>A (p.Ile523Lys)
c.1625T>A (p.Ile542Lys)
c.1664T>A (p.Ile555Lys)
c.1331T>A (p.Ile444Lys)
n.1904T>A
n.1795T>A
1g.243426435T>CCA345667655SDCCAG8c.1862T>C (p.Ile621Thr)
c.965T>C (p.Ile322Thr)
n.69T>C
c.1733T>C (p.Ile578Thr)
c.1439T>C (p.Ile480Thr)
c.959T>C (p.Ile320Thr)
c.941T>C (p.Ile314Thr)
c.1892T>C (p.Ile631Thr)
c.1763T>C (p.Ile588Thr)
c.1703T>C (p.Ile568Thr)
c.1988T>C (p.Ile663Thr)
c.1958T>C (p.Ile653Thr)
c.1799T>C (p.Ile600Thr)
c.1751T>C (p.Ile584Thr)
c.1574T>C (p.Ile525Thr)
c.1526T>C (p.Ile509Thr)
c.917T>C (p.Ile306Thr)
n.2012T>C
c.1568T>C (p.Ile523Thr)
c.1625T>C (p.Ile542Thr)
c.1664T>C (p.Ile555Thr)
c.1331T>C (p.Ile444Thr)
n.1904T>C
n.1795T>C
 gnomAD v4
1g.243426435T>GCA345667656SDCCAG8c.1862T>G (p.Ile621Arg)
c.965T>G (p.Ile322Arg)
n.69T>G
c.1733T>G (p.Ile578Arg)
c.1439T>G (p.Ile480Arg)
c.959T>G (p.Ile320Arg)
c.941T>G (p.Ile314Arg)
c.1892T>G (p.Ile631Arg)
c.1763T>G (p.Ile588Arg)
c.1703T>G (p.Ile568Arg)
c.1988T>G (p.Ile663Arg)
c.1958T>G (p.Ile653Arg)
c.1799T>G (p.Ile600Arg)
c.1751T>G (p.Ile584Arg)
c.1574T>G (p.Ile525Arg)
c.1526T>G (p.Ile509Arg)
c.917T>G (p.Ile306Arg)
n.2012T>G
c.1568T>G (p.Ile523Arg)
c.1625T>G (p.Ile542Arg)
c.1664T>G (p.Ile555Arg)
c.1331T>G (p.Ile444Arg)
n.1904T>G
n.1795T>G
1g.243426436A>CCA424346844SDCCAG8c.1863A>C (p.Ile621=)
c.966A>C (p.Ile322=)
n.70A>C
c.1734A>C (p.Ile578=)
c.1440A>C (p.Ile480=)
c.960A>C (p.Ile320=)
c.942A>C (p.Ile314=)
c.1893A>C (p.Ile631=)
c.1764A>C (p.Ile588=)
c.1704A>C (p.Ile568=)
c.1989A>C (p.Ile663=)
c.1959A>C (p.Ile653=)
c.1800A>C (p.Ile600=)
c.1752A>C (p.Ile584=)
c.1575A>C (p.Ile525=)
c.1527A>C (p.Ile509=)
c.918A>C (p.Ile306=)
n.2013A>C
c.1569A>C (p.Ile523=)
c.1626A>C (p.Ile542=)
c.1665A>C (p.Ile555=)
c.1332A>C (p.Ile444=)
n.1905A>C
n.1796A>C
1g.243426436A>GCA345667657SDCCAG8c.1863A>G (p.Ile621Met)
c.966A>G (p.Ile322Met)
n.70A>G
c.1734A>G (p.Ile578Met)
c.1440A>G (p.Ile480Met)
c.960A>G (p.Ile320Met)
c.942A>G (p.Ile314Met)
c.1893A>G (p.Ile631Met)
c.1764A>G (p.Ile588Met)
c.1704A>G (p.Ile568Met)
c.1989A>G (p.Ile663Met)
c.1959A>G (p.Ile653Met)
c.1800A>G (p.Ile600Met)
c.1752A>G (p.Ile584Met)
c.1575A>G (p.Ile525Met)
c.1527A>G (p.Ile509Met)
c.918A>G (p.Ile306Met)
n.2013A>G
c.1569A>G (p.Ile523Met)
c.1626A>G (p.Ile542Met)
c.1665A>G (p.Ile555Met)
c.1332A>G (p.Ile444Met)
n.1905A>G
n.1796A>G
1g.243426436A>TCA424346843SDCCAG8c.1863A>T (p.Ile621=)
c.966A>T (p.Ile322=)
n.70A>T
c.1734A>T (p.Ile578=)
c.1440A>T (p.Ile480=)
c.960A>T (p.Ile320=)
c.942A>T (p.Ile314=)
c.1893A>T (p.Ile631=)
c.1764A>T (p.Ile588=)
c.1704A>T (p.Ile568=)
c.1989A>T (p.Ile663=)
c.1959A>T (p.Ile653=)
c.1800A>T (p.Ile600=)
c.1752A>T (p.Ile584=)
c.1575A>T (p.Ile525=)
c.1527A>T (p.Ile509=)
c.918A>T (p.Ile306=)
n.2013A>T
c.1569A>T (p.Ile523=)
c.1626A>T (p.Ile542=)
c.1665A>T (p.Ile555=)
c.1332A>T (p.Ile444=)
n.1905A>T
n.1796A>T
1g.243426437G>ACA345667658SDCCAG8c.1864G>A (p.Ala622Thr)
c.967G>A (p.Ala323Thr)
n.71G>A
c.1735G>A (p.Ala579Thr)
c.1441G>A (p.Ala481Thr)
c.961G>A (p.Ala321Thr)
c.943G>A (p.Ala315Thr)
c.1894G>A (p.Ala632Thr)
c.1765G>A (p.Ala589Thr)
c.1705G>A (p.Ala569Thr)
c.1990G>A (p.Ala664Thr)
c.1960G>A (p.Ala654Thr)
c.1801G>A (p.Ala601Thr)
c.1753G>A (p.Ala585Thr)
c.1576G>A (p.Ala526Thr)
c.1528G>A (p.Ala510Thr)
c.919G>A (p.Ala307Thr)
n.2014G>A
c.1570G>A (p.Ala524Thr)
c.1627G>A (p.Ala543Thr)
c.1666G>A (p.Ala556Thr)
c.1333G>A (p.Ala445Thr)
n.1906G>A
n.1797G>A
1g.243426437G>CCA345667659SDCCAG8c.1864G>C (p.Ala622Pro)
c.967G>C (p.Ala323Pro)
n.71G>C
c.1735G>C (p.Ala579Pro)
c.1441G>C (p.Ala481Pro)
c.961G>C (p.Ala321Pro)
c.943G>C (p.Ala315Pro)
c.1894G>C (p.Ala632Pro)
c.1765G>C (p.Ala589Pro)
c.1705G>C (p.Ala569Pro)
c.1990G>C (p.Ala664Pro)
c.1960G>C (p.Ala654Pro)
c.1801G>C (p.Ala601Pro)
c.1753G>C (p.Ala585Pro)
c.1576G>C (p.Ala526Pro)
c.1528G>C (p.Ala510Pro)
c.919G>C (p.Ala307Pro)
n.2014G>C
c.1570G>C (p.Ala524Pro)
c.1627G>C (p.Ala543Pro)
c.1666G>C (p.Ala556Pro)
c.1333G>C (p.Ala445Pro)
n.1906G>C
n.1797G>C
1g.243426437G>TCA345667660SDCCAG8c.1864G>T (p.Ala622Ser)
c.967G>T (p.Ala323Ser)
n.71G>T
c.1735G>T (p.Ala579Ser)
c.1441G>T (p.Ala481Ser)
c.961G>T (p.Ala321Ser)
c.943G>T (p.Ala315Ser)
c.1894G>T (p.Ala632Ser)
c.1765G>T (p.Ala589Ser)
c.1705G>T (p.Ala569Ser)
c.1990G>T (p.Ala664Ser)
c.1960G>T (p.Ala654Ser)
c.1801G>T (p.Ala601Ser)
c.1753G>T (p.Ala585Ser)
c.1576G>T (p.Ala526Ser)
c.1528G>T (p.Ala510Ser)
c.919G>T (p.Ala307Ser)
n.2014G>T
c.1570G>T (p.Ala524Ser)
c.1627G>T (p.Ala543Ser)
c.1666G>T (p.Ala556Ser)
c.1333G>T (p.Ala445Ser)
n.1906G>T
n.1797G>T
1g.243426438C>ACA345667661SDCCAG8c.1865C>A (p.Ala622Asp)
c.968C>A (p.Ala323Asp)
n.72C>A
c.1736C>A (p.Ala579Asp)
c.1442C>A (p.Ala481Asp)
c.962C>A (p.Ala321Asp)
c.944C>A (p.Ala315Asp)
c.1895C>A (p.Ala632Asp)
c.1766C>A (p.Ala589Asp)
c.1706C>A (p.Ala569Asp)
c.1991C>A (p.Ala664Asp)
c.1961C>A (p.Ala654Asp)
c.1802C>A (p.Ala601Asp)
c.1754C>A (p.Ala585Asp)
c.1577C>A (p.Ala526Asp)
c.1529C>A (p.Ala510Asp)
c.920C>A (p.Ala307Asp)
n.2015C>A
c.1571C>A (p.Ala524Asp)
c.1628C>A (p.Ala543Asp)
c.1667C>A (p.Ala556Asp)
c.1334C>A (p.Ala445Asp)
n.1907C>A
n.1798C>A
1g.243426438C=CA1230390589SDCCAG8c.1865C= (p.Ala622=)
c.968C= (p.Ala323=)
n.72C=
c.1736C= (p.Ala579=)
c.1442C= (p.Ala481=)
c.962C= (p.Ala321=)
c.944C= (p.Ala315=)
c.1895C= (p.Ala632=)
c.1766C= (p.Ala589=)
c.1706C= (p.Ala569=)
c.1991C= (p.Ala664=)
c.1961C= (p.Ala654=)
c.1802C= (p.Ala601=)
c.1754C= (p.Ala585=)
c.1577C= (p.Ala526=)
c.1529C= (p.Ala510=)
c.920C= (p.Ala307=)
n.2015C=
c.1571C= (p.Ala524=)
c.1628C= (p.Ala543=)
c.1667C= (p.Ala556=)
c.1334C= (p.Ala445=)
n.1907C=
n.1798C=
1g.243426438C>GCA345667662SDCCAG8c.1865C>G (p.Ala622Gly)
c.968C>G (p.Ala323Gly)
n.72C>G
c.1736C>G (p.Ala579Gly)
c.1442C>G (p.Ala481Gly)
c.962C>G (p.Ala321Gly)
c.944C>G (p.Ala315Gly)
c.1895C>G (p.Ala632Gly)
c.1766C>G (p.Ala589Gly)
c.1706C>G (p.Ala569Gly)
c.1991C>G (p.Ala664Gly)
c.1961C>G (p.Ala654Gly)
c.1802C>G (p.Ala601Gly)
c.1754C>G (p.Ala585Gly)
c.1577C>G (p.Ala526Gly)
c.1529C>G (p.Ala510Gly)
c.920C>G (p.Ala307Gly)
n.2015C>G
c.1571C>G (p.Ala524Gly)
c.1628C>G (p.Ala543Gly)
c.1667C>G (p.Ala556Gly)
c.1334C>G (p.Ala445Gly)
n.1907C>G
n.1798C>G
1g.243426438C>TCA1483764SDCCAG8c.1865C>T (p.Ala622Val)
c.968C>T (p.Ala323Val)
n.72C>T
c.1736C>T (p.Ala579Val)
c.1442C>T (p.Ala481Val)
c.962C>T (p.Ala321Val)
c.944C>T (p.Ala315Val)
c.1895C>T (p.Ala632Val)
c.1766C>T (p.Ala589Val)
c.1706C>T (p.Ala569Val)
c.1991C>T (p.Ala664Val)
c.1961C>T (p.Ala654Val)
c.1802C>T (p.Ala601Val)
c.1754C>T (p.Ala585Val)
c.1577C>T (p.Ala526Val)
c.1529C>T (p.Ala510Val)
c.920C>T (p.Ala307Val)
n.2015C>T
c.1571C>T (p.Ala524Val)
c.1628C>T (p.Ala543Val)
c.1667C>T (p.Ala556Val)
c.1334C>T (p.Ala445Val)
n.1907C>T
n.1798C>T
 dbSNP ExAC gnomAD v2
1g.243426439T>ACA424346847SDCCAG8c.1866T>A (p.Ala622=)
c.969T>A (p.Ala323=)
n.73T>A
c.1737T>A (p.Ala579=)
c.1443T>A (p.Ala481=)
c.963T>A (p.Ala321=)
c.945T>A (p.Ala315=)
c.1896T>A (p.Ala632=)
c.1767T>A (p.Ala589=)
c.1707T>A (p.Ala569=)
c.1992T>A (p.Ala664=)
c.1962T>A (p.Ala654=)
c.1803T>A (p.Ala601=)
c.1755T>A (p.Ala585=)
c.1578T>A (p.Ala526=)
c.1530T>A (p.Ala510=)
c.921T>A (p.Ala307=)
n.2016T>A
c.1572T>A (p.Ala524=)
c.1629T>A (p.Ala543=)
c.1668T>A (p.Ala556=)
c.1335T>A (p.Ala445=)
n.1908T>A
n.1799T>A
1g.243426439T>CCA424346846SDCCAG8c.1866T>C (p.Ala622=)
c.969T>C (p.Ala323=)
n.73T>C
c.1737T>C (p.Ala579=)
c.1443T>C (p.Ala481=)
c.963T>C (p.Ala321=)
c.945T>C (p.Ala315=)
c.1896T>C (p.Ala632=)
c.1767T>C (p.Ala589=)
c.1707T>C (p.Ala569=)
c.1992T>C (p.Ala664=)
c.1962T>C (p.Ala654=)
c.1803T>C (p.Ala601=)
c.1755T>C (p.Ala585=)
c.1578T>C (p.Ala526=)
c.1530T>C (p.Ala510=)
c.921T>C (p.Ala307=)
n.2016T>C
c.1572T>C (p.Ala524=)
c.1629T>C (p.Ala543=)
c.1668T>C (p.Ala556=)
c.1335T>C (p.Ala445=)
n.1908T>C
n.1799T>C
 dbSNP gnomAD v2 gnomAD v4
1g.243426439T>GCA424346845SDCCAG8c.1866T>G (p.Ala622=)
c.969T>G (p.Ala323=)
n.73T>G
c.1737T>G (p.Ala579=)
c.1443T>G (p.Ala481=)
c.963T>G (p.Ala321=)
c.945T>G (p.Ala315=)
c.1896T>G (p.Ala632=)
c.1767T>G (p.Ala589=)
c.1707T>G (p.Ala569=)
c.1992T>G (p.Ala664=)
c.1962T>G (p.Ala654=)
c.1803T>G (p.Ala601=)
c.1755T>G (p.Ala585=)
c.1578T>G (p.Ala526=)
c.1530T>G (p.Ala510=)
c.921T>G (p.Ala307=)
n.2016T>G
c.1572T>G (p.Ala524=)
c.1629T>G (p.Ala543=)
c.1668T>G (p.Ala556=)
c.1335T>G (p.Ala445=)
n.1908T>G
n.1799T>G
1g.243426439T=CA1230390590SDCCAG8c.1866T= (p.Ala622=)
c.969T= (p.Ala323=)
n.73T=
c.1737T= (p.Ala579=)
c.1443T= (p.Ala481=)
c.963T= (p.Ala321=)
c.945T= (p.Ala315=)
c.1896T= (p.Ala632=)
c.1767T= (p.Ala589=)
c.1707T= (p.Ala569=)
c.1992T= (p.Ala664=)
c.1962T= (p.Ala654=)
c.1803T= (p.Ala601=)
c.1755T= (p.Ala585=)
c.1578T= (p.Ala526=)
c.1530T= (p.Ala510=)
c.921T= (p.Ala307=)
n.2016T=
c.1572T= (p.Ala524=)
c.1629T= (p.Ala543=)
c.1668T= (p.Ala556=)
c.1335T= (p.Ala445=)
n.1908T=
n.1799T=
1g.243426440C>ACA345667663SDCCAG8c.1867C>A (p.Gln623Lys)
c.970C>A (p.Gln324Lys)
n.74C>A
c.1738C>A (p.Gln580Lys)
c.1444C>A (p.Gln482Lys)
c.964C>A (p.Gln322Lys)
c.946C>A (p.Gln316Lys)
c.1897C>A (p.Gln633Lys)
c.1768C>A (p.Gln590Lys)
c.1708C>A (p.Gln570Lys)
c.1993C>A (p.Gln665Lys)
c.1963C>A (p.Gln655Lys)
c.1804C>A (p.Gln602Lys)
c.1756C>A (p.Gln586Lys)
c.1579C>A (p.Gln527Lys)
c.1531C>A (p.Gln511Lys)
c.922C>A (p.Gln308Lys)
n.2017C>A
c.1573C>A (p.Gln525Lys)
c.1630C>A (p.Gln544Lys)
c.1669C>A (p.Gln557Lys)
c.1336C>A (p.Gln446Lys)
n.1909C>A
n.1800C>A
1g.243426440C>GCA345667664SDCCAG8c.1867C>G (p.Gln623Glu)
c.970C>G (p.Gln324Glu)
n.74C>G
c.1738C>G (p.Gln580Glu)
c.1444C>G (p.Gln482Glu)
c.964C>G (p.Gln322Glu)
c.946C>G (p.Gln316Glu)
c.1897C>G (p.Gln633Glu)
c.1768C>G (p.Gln590Glu)
c.1708C>G (p.Gln570Glu)
c.1993C>G (p.Gln665Glu)
c.1963C>G (p.Gln655Glu)
c.1804C>G (p.Gln602Glu)
c.1756C>G (p.Gln586Glu)
c.1579C>G (p.Gln527Glu)
c.1531C>G (p.Gln511Glu)
c.922C>G (p.Gln308Glu)
n.2017C>G
c.1573C>G (p.Gln525Glu)
c.1630C>G (p.Gln544Glu)
c.1669C>G (p.Gln557Glu)
c.1336C>G (p.Gln446Glu)
n.1909C>G
n.1800C>G
1g.243426440C>TCA345667665SDCCAG8c.1867C>T (p.Gln623Ter)
c.970C>T (p.Gln324Ter)
n.74C>T
c.1738C>T (p.Gln580Ter)
c.1444C>T (p.Gln482Ter)
c.964C>T (p.Gln322Ter)
c.946C>T (p.Gln316Ter)
c.1897C>T (p.Gln633Ter)
c.1768C>T (p.Gln590Ter)
c.1708C>T (p.Gln570Ter)
c.1993C>T (p.Gln665Ter)
c.1963C>T (p.Gln655Ter)
c.1804C>T (p.Gln602Ter)
c.1756C>T (p.Gln586Ter)
c.1579C>T (p.Gln527Ter)
c.1531C>T (p.Gln511Ter)
c.922C>T (p.Gln308Ter)
n.2017C>T
c.1573C>T (p.Gln525Ter)
c.1630C>T (p.Gln544Ter)
c.1669C>T (p.Gln557Ter)
c.1336C>T (p.Gln446Ter)
n.1909C>T
n.1800C>T
1g.243426441A=CA1230390591SDCCAG8c.1868A= (p.Gln623=)
c.971A= (p.Gln324=)
n.75A=
c.1739A= (p.Gln580=)
c.1445A= (p.Gln482=)
c.965A= (p.Gln322=)
c.947A= (p.Gln316=)
c.1898A= (p.Gln633=)
c.1769A= (p.Gln590=)
c.1709A= (p.Gln570=)
c.1994A= (p.Gln665=)
c.1964A= (p.Gln655=)
c.1805A= (p.Gln602=)
c.1757A= (p.Gln586=)
c.1580A= (p.Gln527=)
c.1532A= (p.Gln511=)
c.923A= (p.Gln308=)
n.2018A=
c.1574A= (p.Gln525=)
c.1631A= (p.Gln544=)
c.1670A= (p.Gln557=)
c.1337A= (p.Gln446=)
n.1910A=
n.1801A=
1g.243426441A>CCA345667667SDCCAG8c.1868A>C (p.Gln623Pro)
c.971A>C (p.Gln324Pro)
n.75A>C
c.1739A>C (p.Gln580Pro)
c.1445A>C (p.Gln482Pro)
c.965A>C (p.Gln322Pro)
c.947A>C (p.Gln316Pro)
c.1898A>C (p.Gln633Pro)
c.1769A>C (p.Gln590Pro)
c.1709A>C (p.Gln570Pro)
c.1994A>C (p.Gln665Pro)
c.1964A>C (p.Gln655Pro)
c.1805A>C (p.Gln602Pro)
c.1757A>C (p.Gln586Pro)
c.1580A>C (p.Gln527Pro)
c.1532A>C (p.Gln511Pro)
c.923A>C (p.Gln308Pro)
n.2018A>C
c.1574A>C (p.Gln525Pro)
c.1631A>C (p.Gln544Pro)
c.1670A>C (p.Gln557Pro)
c.1337A>C (p.Gln446Pro)
n.1910A>C
n.1801A>C
1g.243426441A>GCA1483765SDCCAG8c.1868A>G (p.Gln623Arg)
c.971A>G (p.Gln324Arg)
n.75A>G
c.1739A>G (p.Gln580Arg)
c.1445A>G (p.Gln482Arg)
c.965A>G (p.Gln322Arg)
c.947A>G (p.Gln316Arg)
c.1898A>G (p.Gln633Arg)
c.1769A>G (p.Gln590Arg)
c.1709A>G (p.Gln570Arg)
c.1994A>G (p.Gln665Arg)
c.1964A>G (p.Gln655Arg)
c.1805A>G (p.Gln602Arg)
c.1757A>G (p.Gln586Arg)
c.1580A>G (p.Gln527Arg)
c.1532A>G (p.Gln511Arg)
c.923A>G (p.Gln308Arg)
n.2018A>G
c.1574A>G (p.Gln525Arg)
c.1631A>G (p.Gln544Arg)
c.1670A>G (p.Gln557Arg)
c.1337A>G (p.Gln446Arg)
n.1910A>G
n.1801A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426441A>TCA345667666SDCCAG8c.1868A>T (p.Gln623Leu)
c.971A>T (p.Gln324Leu)
n.75A>T
c.1739A>T (p.Gln580Leu)
c.1445A>T (p.Gln482Leu)
c.965A>T (p.Gln322Leu)
c.947A>T (p.Gln316Leu)
c.1898A>T (p.Gln633Leu)
c.1769A>T (p.Gln590Leu)
c.1709A>T (p.Gln570Leu)
c.1994A>T (p.Gln665Leu)
c.1964A>T (p.Gln655Leu)
c.1805A>T (p.Gln602Leu)
c.1757A>T (p.Gln586Leu)
c.1580A>T (p.Gln527Leu)
c.1532A>T (p.Gln511Leu)
c.923A>T (p.Gln308Leu)
n.2018A>T
c.1574A>T (p.Gln525Leu)
c.1631A>T (p.Gln544Leu)
c.1670A>T (p.Gln557Leu)
c.1337A>T (p.Gln446Leu)
n.1910A>T
n.1801A>T
1g.243426442A>CCA345667669SDCCAG8c.1869A>C (p.Gln623His)
c.972A>C (p.Gln324His)
n.76A>C
c.1740A>C (p.Gln580His)
c.1446A>C (p.Gln482His)
c.966A>C (p.Gln322His)
c.948A>C (p.Gln316His)
c.1899A>C (p.Gln633His)
c.1770A>C (p.Gln590His)
c.1710A>C (p.Gln570His)
c.1995A>C (p.Gln665His)
c.1965A>C (p.Gln655His)
c.1806A>C (p.Gln602His)
c.1758A>C (p.Gln586His)
c.1581A>C (p.Gln527His)
c.1533A>C (p.Gln511His)
c.924A>C (p.Gln308His)
n.2019A>C
c.1575A>C (p.Gln525His)
c.1632A>C (p.Gln544His)
c.1671A>C (p.Gln557His)
c.1338A>C (p.Gln446His)
n.1911A>C
n.1802A>C
1g.243426442A>GCA424346848SDCCAG8c.1869A>G (p.Gln623=)
c.972A>G (p.Gln324=)
n.76A>G
c.1740A>G (p.Gln580=)
c.1446A>G (p.Gln482=)
c.966A>G (p.Gln322=)
c.948A>G (p.Gln316=)
c.1899A>G (p.Gln633=)
c.1770A>G (p.Gln590=)
c.1710A>G (p.Gln570=)
c.1995A>G (p.Gln665=)
c.1965A>G (p.Gln655=)
c.1806A>G (p.Gln602=)
c.1758A>G (p.Gln586=)
c.1581A>G (p.Gln527=)
c.1533A>G (p.Gln511=)
c.924A>G (p.Gln308=)
n.2019A>G
c.1575A>G (p.Gln525=)
c.1632A>G (p.Gln544=)
c.1671A>G (p.Gln557=)
c.1338A>G (p.Gln446=)
n.1911A>G
n.1802A>G
1g.243426442A>TCA345667668SDCCAG8c.1869A>T (p.Gln623His)
c.972A>T (p.Gln324His)
n.76A>T
c.1740A>T (p.Gln580His)
c.1446A>T (p.Gln482His)
c.966A>T (p.Gln322His)
c.948A>T (p.Gln316His)
c.1899A>T (p.Gln633His)
c.1770A>T (p.Gln590His)
c.1710A>T (p.Gln570His)
c.1995A>T (p.Gln665His)
c.1965A>T (p.Gln655His)
c.1806A>T (p.Gln602His)
c.1758A>T (p.Gln586His)
c.1581A>T (p.Gln527His)
c.1533A>T (p.Gln511His)
c.924A>T (p.Gln308His)
n.2019A>T
c.1575A>T (p.Gln525His)
c.1632A>T (p.Gln544His)
c.1671A>T (p.Gln557His)
c.1338A>T (p.Gln446His)
n.1911A>T
n.1802A>T
1g.243426443C>ACA345667670SDCCAG8c.1870C>A (p.Leu624Ile)
c.973C>A (p.Leu325Ile)
n.77C>A
c.1741C>A (p.Leu581Ile)
c.1447C>A (p.Leu483Ile)
c.967C>A (p.Leu323Ile)
c.949C>A (p.Leu317Ile)
c.1900C>A (p.Leu634Ile)
c.1771C>A (p.Leu591Ile)
c.1711C>A (p.Leu571Ile)
c.1996C>A (p.Leu666Ile)
c.1966C>A (p.Leu656Ile)
c.1807C>A (p.Leu603Ile)
c.1759C>A (p.Leu587Ile)
c.1582C>A (p.Leu528Ile)
c.1534C>A (p.Leu512Ile)
c.925C>A (p.Leu309Ile)
n.2020C>A
c.1576C>A (p.Leu526Ile)
c.1633C>A (p.Leu545Ile)
c.1672C>A (p.Leu558Ile)
c.1339C>A (p.Leu447Ile)
n.1912C>A
n.1803C>A
1g.243426443C>GCA345667671SDCCAG8c.1870C>G (p.Leu624Val)
c.973C>G (p.Leu325Val)
n.77C>G
c.1741C>G (p.Leu581Val)
c.1447C>G (p.Leu483Val)
c.967C>G (p.Leu323Val)
c.949C>G (p.Leu317Val)
c.1900C>G (p.Leu634Val)
c.1771C>G (p.Leu591Val)
c.1711C>G (p.Leu571Val)
c.1996C>G (p.Leu666Val)
c.1966C>G (p.Leu656Val)
c.1807C>G (p.Leu603Val)
c.1759C>G (p.Leu587Val)
c.1582C>G (p.Leu528Val)
c.1534C>G (p.Leu512Val)
c.925C>G (p.Leu309Val)
n.2020C>G
c.1576C>G (p.Leu526Val)
c.1633C>G (p.Leu545Val)
c.1672C>G (p.Leu558Val)
c.1339C>G (p.Leu447Val)
n.1912C>G
n.1803C>G
1g.243426443C>TCA345667672SDCCAG8c.1870C>T (p.Leu624Phe)
c.973C>T (p.Leu325Phe)
n.77C>T
c.1741C>T (p.Leu581Phe)
c.1447C>T (p.Leu483Phe)
c.967C>T (p.Leu323Phe)
c.949C>T (p.Leu317Phe)
c.1900C>T (p.Leu634Phe)
c.1771C>T (p.Leu591Phe)
c.1711C>T (p.Leu571Phe)
c.1996C>T (p.Leu666Phe)
c.1966C>T (p.Leu656Phe)
c.1807C>T (p.Leu603Phe)
c.1759C>T (p.Leu587Phe)
c.1582C>T (p.Leu528Phe)
c.1534C>T (p.Leu512Phe)
c.925C>T (p.Leu309Phe)
n.2020C>T
c.1576C>T (p.Leu526Phe)
c.1633C>T (p.Leu545Phe)
c.1672C>T (p.Leu558Phe)
c.1339C>T (p.Leu447Phe)
n.1912C>T
n.1803C>T
1g.243426444T>ACA345667673SDCCAG8c.1871T>A (p.Leu624His)
c.974T>A (p.Leu325His)
n.78T>A
c.1742T>A (p.Leu581His)
c.1448T>A (p.Leu483His)
c.968T>A (p.Leu323His)
c.950T>A (p.Leu317His)
c.1901T>A (p.Leu634His)
c.1772T>A (p.Leu591His)
c.1712T>A (p.Leu571His)
c.1997T>A (p.Leu666His)
c.1967T>A (p.Leu656His)
c.1808T>A (p.Leu603His)
c.1760T>A (p.Leu587His)
c.1583T>A (p.Leu528His)
c.1535T>A (p.Leu512His)
c.926T>A (p.Leu309His)
n.2021T>A
c.1577T>A (p.Leu526His)
c.1634T>A (p.Leu545His)
c.1673T>A (p.Leu558His)
c.1340T>A (p.Leu447His)
n.1913T>A
n.1804T>A
1g.243426444T>CCA345667674SDCCAG8c.1871T>C (p.Leu624Pro)
c.974T>C (p.Leu325Pro)
n.78T>C
c.1742T>C (p.Leu581Pro)
c.1448T>C (p.Leu483Pro)
c.968T>C (p.Leu323Pro)
c.950T>C (p.Leu317Pro)
c.1901T>C (p.Leu634Pro)
c.1772T>C (p.Leu591Pro)
c.1712T>C (p.Leu571Pro)
c.1997T>C (p.Leu666Pro)
c.1967T>C (p.Leu656Pro)
c.1808T>C (p.Leu603Pro)
c.1760T>C (p.Leu587Pro)
c.1583T>C (p.Leu528Pro)
c.1535T>C (p.Leu512Pro)
c.926T>C (p.Leu309Pro)
n.2021T>C
c.1577T>C (p.Leu526Pro)
c.1634T>C (p.Leu545Pro)
c.1673T>C (p.Leu558Pro)
c.1340T>C (p.Leu447Pro)
n.1913T>C
n.1804T>C
1g.243426444T>GCA345667675SDCCAG8c.1871T>G (p.Leu624Arg)
c.974T>G (p.Leu325Arg)
n.78T>G
c.1742T>G (p.Leu581Arg)
c.1448T>G (p.Leu483Arg)
c.968T>G (p.Leu323Arg)
c.950T>G (p.Leu317Arg)
c.1901T>G (p.Leu634Arg)
c.1772T>G (p.Leu591Arg)
c.1712T>G (p.Leu571Arg)
c.1997T>G (p.Leu666Arg)
c.1967T>G (p.Leu656Arg)
c.1808T>G (p.Leu603Arg)
c.1760T>G (p.Leu587Arg)
c.1583T>G (p.Leu528Arg)
c.1535T>G (p.Leu512Arg)
c.926T>G (p.Leu309Arg)
n.2021T>G
c.1577T>G (p.Leu526Arg)
c.1634T>G (p.Leu545Arg)
c.1673T>G (p.Leu558Arg)
c.1340T>G (p.Leu447Arg)
n.1913T>G
n.1804T>G
1g.243426445delCA1139771910SDCCAG8c.1872del (p.Ser625ValfsTer?)
c.975del (p.Ser326ValfsTer?)
n.79del
c.1743del (p.Ser582ValfsTer?)
c.1449del (p.Ser484ValfsTer?)
c.969del (p.Ser324ValfsTer?)
c.951del (p.Ser318ValfsTer?)
c.1902del (p.Ser635ValfsTer?)
c.1773del (p.Ser592ValfsTer?)
c.1713del (p.Ser572ValfsTer?)
c.1998del (p.Ser667ValfsTer?)
c.1968del (p.Ser657ValfsTer?)
c.1809del (p.Ser604ValfsTer?)
c.1761del (p.Ser588ValfsTer?)
c.1584del (p.Ser529ValfsTer?)
c.1536del (p.Ser513ValfsTer?)
c.927del (p.Ser310ValfsTer?)
n.2022del
c.1578del (p.Ser527ValfsTer?)
c.1635del (p.Ser546ValfsTer?)
c.1674del (p.Ser559ValfsTer?)
c.1341del (p.Ser448ValfsTer?)
n.1914del
n.1805del
1g.243426445C>ACA424346849SDCCAG8c.1872C>A (p.Leu624=)
c.975C>A (p.Leu325=)
n.79C>A
c.1743C>A (p.Leu581=)
c.1449C>A (p.Leu483=)
c.969C>A (p.Leu323=)
c.951C>A (p.Leu317=)
c.1902C>A (p.Leu634=)
c.1773C>A (p.Leu591=)
c.1713C>A (p.Leu571=)
c.1998C>A (p.Leu666=)
c.1968C>A (p.Leu656=)
c.1809C>A (p.Leu603=)
c.1761C>A (p.Leu587=)
c.1584C>A (p.Leu528=)
c.1536C>A (p.Leu512=)
c.927C>A (p.Leu309=)
n.2022C>A
c.1578C>A (p.Leu526=)
c.1635C>A (p.Leu545=)
c.1674C>A (p.Leu558=)
c.1341C>A (p.Leu447=)
n.1914C>A
n.1805C>A
1g.243426445C>GCA424346850SDCCAG8c.1872C>G (p.Leu624=)
c.975C>G (p.Leu325=)
n.79C>G
c.1743C>G (p.Leu581=)
c.1449C>G (p.Leu483=)
c.969C>G (p.Leu323=)
c.951C>G (p.Leu317=)
c.1902C>G (p.Leu634=)
c.1773C>G (p.Leu591=)
c.1713C>G (p.Leu571=)
c.1998C>G (p.Leu666=)
c.1968C>G (p.Leu656=)
c.1809C>G (p.Leu603=)
c.1761C>G (p.Leu587=)
c.1584C>G (p.Leu528=)
c.1536C>G (p.Leu512=)
c.927C>G (p.Leu309=)
n.2022C>G
c.1578C>G (p.Leu526=)
c.1635C>G (p.Leu545=)
c.1674C>G (p.Leu558=)
c.1341C>G (p.Leu447=)
n.1914C>G
n.1805C>G
1g.243426445C>TCA424346851SDCCAG8c.1872C>T (p.Leu624=)
c.975C>T (p.Leu325=)
n.79C>T
c.1743C>T (p.Leu581=)
c.1449C>T (p.Leu483=)
c.969C>T (p.Leu323=)
c.951C>T (p.Leu317=)
c.1902C>T (p.Leu634=)
c.1773C>T (p.Leu591=)
c.1713C>T (p.Leu571=)
c.1998C>T (p.Leu666=)
c.1968C>T (p.Leu656=)
c.1809C>T (p.Leu603=)
c.1761C>T (p.Leu587=)
c.1584C>T (p.Leu528=)
c.1536C>T (p.Leu512=)
c.927C>T (p.Leu309=)
n.2022C>T
c.1578C>T (p.Leu526=)
c.1635C>T (p.Leu545=)
c.1674C>T (p.Leu558=)
c.1341C>T (p.Leu447=)
n.1914C>T
n.1805C>T
1g.243426446A>CCA345667678SDCCAG8c.1873A>C (p.Ser625Arg)
c.976A>C (p.Ser326Arg)
n.80A>C
c.1744A>C (p.Ser582Arg)
c.1450A>C (p.Ser484Arg)
c.970A>C (p.Ser324Arg)
c.952A>C (p.Ser318Arg)
c.1903A>C (p.Ser635Arg)
c.1774A>C (p.Ser592Arg)
c.1714A>C (p.Ser572Arg)
c.1999A>C (p.Ser667Arg)
c.1969A>C (p.Ser657Arg)
c.1810A>C (p.Ser604Arg)
c.1762A>C (p.Ser588Arg)
c.1585A>C (p.Ser529Arg)
c.1537A>C (p.Ser513Arg)
c.928A>C (p.Ser310Arg)
n.2023A>C
c.1579A>C (p.Ser527Arg)
c.1636A>C (p.Ser546Arg)
c.1675A>C (p.Ser559Arg)
c.1342A>C (p.Ser448Arg)
n.1915A>C
n.1806A>C
1g.243426446A>GCA345667676SDCCAG8c.1873A>G (p.Ser625Gly)
c.976A>G (p.Ser326Gly)
n.80A>G
c.1744A>G (p.Ser582Gly)
c.1450A>G (p.Ser484Gly)
c.970A>G (p.Ser324Gly)
c.952A>G (p.Ser318Gly)
c.1903A>G (p.Ser635Gly)
c.1774A>G (p.Ser592Gly)
c.1714A>G (p.Ser572Gly)
c.1999A>G (p.Ser667Gly)
c.1969A>G (p.Ser657Gly)
c.1810A>G (p.Ser604Gly)
c.1762A>G (p.Ser588Gly)
c.1585A>G (p.Ser529Gly)
c.1537A>G (p.Ser513Gly)
c.928A>G (p.Ser310Gly)
n.2023A>G
c.1579A>G (p.Ser527Gly)
c.1636A>G (p.Ser546Gly)
c.1675A>G (p.Ser559Gly)
c.1342A>G (p.Ser448Gly)
n.1915A>G
n.1806A>G
1g.243426446A>TCA345667677SDCCAG8c.1873A>T (p.Ser625Cys)
c.976A>T (p.Ser326Cys)
n.80A>T
c.1744A>T (p.Ser582Cys)
c.1450A>T (p.Ser484Cys)
c.970A>T (p.Ser324Cys)
c.952A>T (p.Ser318Cys)
c.1903A>T (p.Ser635Cys)
c.1774A>T (p.Ser592Cys)
c.1714A>T (p.Ser572Cys)
c.1999A>T (p.Ser667Cys)
c.1969A>T (p.Ser657Cys)
c.1810A>T (p.Ser604Cys)
c.1762A>T (p.Ser588Cys)
c.1585A>T (p.Ser529Cys)
c.1537A>T (p.Ser513Cys)
c.928A>T (p.Ser310Cys)
n.2023A>T
c.1579A>T (p.Ser527Cys)
c.1636A>T (p.Ser546Cys)
c.1675A>T (p.Ser559Cys)
c.1342A>T (p.Ser448Cys)
n.1915A>T
n.1806A>T
1g.243426447G>ACA345667679SDCCAG8c.1874G>A (p.Ser625Asn)
c.977G>A (p.Ser326Asn)
n.81G>A
c.1745G>A (p.Ser582Asn)
c.1451G>A (p.Ser484Asn)
c.971G>A (p.Ser324Asn)
c.953G>A (p.Ser318Asn)
c.1904G>A (p.Ser635Asn)
c.1775G>A (p.Ser592Asn)
c.1715G>A (p.Ser572Asn)
c.2000G>A (p.Ser667Asn)
c.1970G>A (p.Ser657Asn)
c.1811G>A (p.Ser604Asn)
c.1763G>A (p.Ser588Asn)
c.1586G>A (p.Ser529Asn)
c.1538G>A (p.Ser513Asn)
c.929G>A (p.Ser310Asn)
n.2024G>A
c.1580G>A (p.Ser527Asn)
c.1637G>A (p.Ser546Asn)
c.1676G>A (p.Ser559Asn)
c.1343G>A (p.Ser448Asn)
n.1916G>A
n.1807G>A
 dbSNP
1g.243426447G>CCA345667680SDCCAG8c.1874G>C (p.Ser625Thr)
c.977G>C (p.Ser326Thr)
n.81G>C
c.1745G>C (p.Ser582Thr)
c.1451G>C (p.Ser484Thr)
c.971G>C (p.Ser324Thr)
c.953G>C (p.Ser318Thr)
c.1904G>C (p.Ser635Thr)
c.1775G>C (p.Ser592Thr)
c.1715G>C (p.Ser572Thr)
c.2000G>C (p.Ser667Thr)
c.1970G>C (p.Ser657Thr)
c.1811G>C (p.Ser604Thr)
c.1763G>C (p.Ser588Thr)
c.1586G>C (p.Ser529Thr)
c.1538G>C (p.Ser513Thr)
c.929G>C (p.Ser310Thr)
n.2024G>C
c.1580G>C (p.Ser527Thr)
c.1637G>C (p.Ser546Thr)
c.1676G>C (p.Ser559Thr)
c.1343G>C (p.Ser448Thr)
n.1916G>C
n.1807G>C
1g.243426447G>TCA345667681SDCCAG8c.1874G>T (p.Ser625Ile)
c.977G>T (p.Ser326Ile)
n.81G>T
c.1745G>T (p.Ser582Ile)
c.1451G>T (p.Ser484Ile)
c.971G>T (p.Ser324Ile)
c.953G>T (p.Ser318Ile)
c.1904G>T (p.Ser635Ile)
c.1775G>T (p.Ser592Ile)
c.1715G>T (p.Ser572Ile)
c.2000G>T (p.Ser667Ile)
c.1970G>T (p.Ser657Ile)
c.1811G>T (p.Ser604Ile)
c.1763G>T (p.Ser588Ile)
c.1586G>T (p.Ser529Ile)
c.1538G>T (p.Ser513Ile)
c.929G>T (p.Ser310Ile)
n.2024G>T
c.1580G>T (p.Ser527Ile)
c.1637G>T (p.Ser546Ile)
c.1676G>T (p.Ser559Ile)
c.1343G>T (p.Ser448Ile)
n.1916G>T
n.1807G>T
1g.243426448T>ACA345667682SDCCAG8c.1875T>A (p.Ser625Arg)
c.978T>A (p.Ser326Arg)
n.82T>A
c.1746T>A (p.Ser582Arg)
c.1452T>A (p.Ser484Arg)
c.972T>A (p.Ser324Arg)
c.954T>A (p.Ser318Arg)
c.1905T>A (p.Ser635Arg)
c.1776T>A (p.Ser592Arg)
c.1716T>A (p.Ser572Arg)
c.2001T>A (p.Ser667Arg)
c.1971T>A (p.Ser657Arg)
c.1812T>A (p.Ser604Arg)
c.1764T>A (p.Ser588Arg)
c.1587T>A (p.Ser529Arg)
c.1539T>A (p.Ser513Arg)
c.930T>A (p.Ser310Arg)
n.2025T>A
c.1581T>A (p.Ser527Arg)
c.1638T>A (p.Ser546Arg)
c.1677T>A (p.Ser559Arg)
c.1344T>A (p.Ser448Arg)
n.1917T>A
n.1808T>A
1g.243426448T>CCA424346852SDCCAG8c.1875T>C (p.Ser625=)
c.978T>C (p.Ser326=)
n.82T>C
c.1746T>C (p.Ser582=)
c.1452T>C (p.Ser484=)
c.972T>C (p.Ser324=)
c.954T>C (p.Ser318=)
c.1905T>C (p.Ser635=)
c.1776T>C (p.Ser592=)
c.1716T>C (p.Ser572=)
c.2001T>C (p.Ser667=)
c.1971T>C (p.Ser657=)
c.1812T>C (p.Ser604=)
c.1764T>C (p.Ser588=)
c.1587T>C (p.Ser529=)
c.1539T>C (p.Ser513=)
c.930T>C (p.Ser310=)
n.2025T>C
c.1581T>C (p.Ser527=)
c.1638T>C (p.Ser546=)
c.1677T>C (p.Ser559=)
c.1344T>C (p.Ser448=)
n.1917T>C
n.1808T>C
1g.243426448T>GCA345667683SDCCAG8c.1875T>G (p.Ser625Arg)
c.978T>G (p.Ser326Arg)
n.82T>G
c.1746T>G (p.Ser582Arg)
c.1452T>G (p.Ser484Arg)
c.972T>G (p.Ser324Arg)
c.954T>G (p.Ser318Arg)
c.1905T>G (p.Ser635Arg)
c.1776T>G (p.Ser592Arg)
c.1716T>G (p.Ser572Arg)
c.2001T>G (p.Ser667Arg)
c.1971T>G (p.Ser657Arg)
c.1812T>G (p.Ser604Arg)
c.1764T>G (p.Ser588Arg)
c.1587T>G (p.Ser529Arg)
c.1539T>G (p.Ser513Arg)
c.930T>G (p.Ser310Arg)
n.2025T>G
c.1581T>G (p.Ser527Arg)
c.1638T>G (p.Ser546Arg)
c.1677T>G (p.Ser559Arg)
c.1344T>G (p.Ser448Arg)
n.1917T>G
n.1808T>G
1g.243426449C>ACA1483766SDCCAG8c.1876C>A (p.Gln626Lys)
c.979C>A (p.Gln327Lys)
n.83C>A
c.1747C>A (p.Gln583Lys)
c.1453C>A (p.Gln485Lys)
c.973C>A (p.Gln325Lys)
c.955C>A (p.Gln319Lys)
c.1906C>A (p.Gln636Lys)
c.1777C>A (p.Gln593Lys)
c.1717C>A (p.Gln573Lys)
c.2002C>A (p.Gln668Lys)
c.1972C>A (p.Gln658Lys)
c.1813C>A (p.Gln605Lys)
c.1765C>A (p.Gln589Lys)
c.1588C>A (p.Gln530Lys)
c.1540C>A (p.Gln514Lys)
c.931C>A (p.Gln311Lys)
n.2026C>A
c.1582C>A (p.Gln528Lys)
c.1639C>A (p.Gln547Lys)
c.1678C>A (p.Gln560Lys)
c.1345C>A (p.Gln449Lys)
n.1918C>A
n.1809C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426449C=CA1230390592SDCCAG8c.1876C= (p.Gln626=)
c.979C= (p.Gln327=)
n.83C=
c.1747C= (p.Gln583=)
c.1453C= (p.Gln485=)
c.973C= (p.Gln325=)
c.955C= (p.Gln319=)
c.1906C= (p.Gln636=)
c.1777C= (p.Gln593=)
c.1717C= (p.Gln573=)
c.2002C= (p.Gln668=)
c.1972C= (p.Gln658=)
c.1813C= (p.Gln605=)
c.1765C= (p.Gln589=)
c.1588C= (p.Gln530=)
c.1540C= (p.Gln514=)
c.931C= (p.Gln311=)
n.2026C=
c.1582C= (p.Gln528=)
c.1639C= (p.Gln547=)
c.1678C= (p.Gln560=)
c.1345C= (p.Gln449=)
n.1918C=
n.1809C=
1g.243426449C>GCA345667684SDCCAG8c.1876C>G (p.Gln626Glu)
c.979C>G (p.Gln327Glu)
n.83C>G
c.1747C>G (p.Gln583Glu)
c.1453C>G (p.Gln485Glu)
c.973C>G (p.Gln325Glu)
c.955C>G (p.Gln319Glu)
c.1906C>G (p.Gln636Glu)
c.1777C>G (p.Gln593Glu)
c.1717C>G (p.Gln573Glu)
c.2002C>G (p.Gln668Glu)
c.1972C>G (p.Gln658Glu)
c.1813C>G (p.Gln605Glu)
c.1765C>G (p.Gln589Glu)
c.1588C>G (p.Gln530Glu)
c.1540C>G (p.Gln514Glu)
c.931C>G (p.Gln311Glu)
n.2026C>G
c.1582C>G (p.Gln528Glu)
c.1639C>G (p.Gln547Glu)
c.1678C>G (p.Gln560Glu)
c.1345C>G (p.Gln449Glu)
n.1918C>G
n.1809C>G
1g.243426449C>TCA345667685SDCCAG8c.1876C>T (p.Gln626Ter)
c.979C>T (p.Gln327Ter)
n.83C>T
c.1747C>T (p.Gln583Ter)
c.1453C>T (p.Gln485Ter)
c.973C>T (p.Gln325Ter)
c.955C>T (p.Gln319Ter)
c.1906C>T (p.Gln636Ter)
c.1777C>T (p.Gln593Ter)
c.1717C>T (p.Gln573Ter)
c.2002C>T (p.Gln668Ter)
c.1972C>T (p.Gln658Ter)
c.1813C>T (p.Gln605Ter)
c.1765C>T (p.Gln589Ter)
c.1588C>T (p.Gln530Ter)
c.1540C>T (p.Gln514Ter)
c.931C>T (p.Gln311Ter)
n.2026C>T
c.1582C>T (p.Gln528Ter)
c.1639C>T (p.Gln547Ter)
c.1678C>T (p.Gln560Ter)
c.1345C>T (p.Gln449Ter)
n.1918C>T
n.1809C>T
1g.243426450A>CCA345667686SDCCAG8c.1877A>C (p.Gln626Pro)
c.980A>C (p.Gln327Pro)
n.84A>C
c.1748A>C (p.Gln583Pro)
c.1454A>C (p.Gln485Pro)
c.974A>C (p.Gln325Pro)
c.956A>C (p.Gln319Pro)
c.1907A>C (p.Gln636Pro)
c.1778A>C (p.Gln593Pro)
c.1718A>C (p.Gln573Pro)
c.2003A>C (p.Gln668Pro)
c.1973A>C (p.Gln658Pro)
c.1814A>C (p.Gln605Pro)
c.1766A>C (p.Gln589Pro)
c.1589A>C (p.Gln530Pro)
c.1541A>C (p.Gln514Pro)
c.932A>C (p.Gln311Pro)
n.2027A>C
c.1583A>C (p.Gln528Pro)
c.1640A>C (p.Gln547Pro)
c.1679A>C (p.Gln560Pro)
c.1346A>C (p.Gln449Pro)
n.1919A>C
n.1810A>C
1g.243426450A>GCA345667687SDCCAG8c.1877A>G (p.Gln626Arg)
c.980A>G (p.Gln327Arg)
n.84A>G
c.1748A>G (p.Gln583Arg)
c.1454A>G (p.Gln485Arg)
c.974A>G (p.Gln325Arg)
c.956A>G (p.Gln319Arg)
c.1907A>G (p.Gln636Arg)
c.1778A>G (p.Gln593Arg)
c.1718A>G (p.Gln573Arg)
c.2003A>G (p.Gln668Arg)
c.1973A>G (p.Gln658Arg)
c.1814A>G (p.Gln605Arg)
c.1766A>G (p.Gln589Arg)
c.1589A>G (p.Gln530Arg)
c.1541A>G (p.Gln514Arg)
c.932A>G (p.Gln311Arg)
n.2027A>G
c.1583A>G (p.Gln528Arg)
c.1640A>G (p.Gln547Arg)
c.1679A>G (p.Gln560Arg)
c.1346A>G (p.Gln449Arg)
n.1919A>G
n.1810A>G
1g.243426450A>TCA345667688SDCCAG8c.1877A>T (p.Gln626Leu)
c.980A>T (p.Gln327Leu)
n.84A>T
c.1748A>T (p.Gln583Leu)
c.1454A>T (p.Gln485Leu)
c.974A>T (p.Gln325Leu)
c.956A>T (p.Gln319Leu)
c.1907A>T (p.Gln636Leu)
c.1778A>T (p.Gln593Leu)
c.1718A>T (p.Gln573Leu)
c.2003A>T (p.Gln668Leu)
c.1973A>T (p.Gln658Leu)
c.1814A>T (p.Gln605Leu)
c.1766A>T (p.Gln589Leu)
c.1589A>T (p.Gln530Leu)
c.1541A>T (p.Gln514Leu)
c.932A>T (p.Gln311Leu)
n.2027A>T
c.1583A>T (p.Gln528Leu)
c.1640A>T (p.Gln547Leu)
c.1679A>T (p.Gln560Leu)
c.1346A>T (p.Gln449Leu)
n.1919A>T
n.1810A>T
1g.243426451A>CCA345667689SDCCAG8c.1878A>C (p.Gln626His)
c.981A>C (p.Gln327His)
n.85A>C
c.1749A>C (p.Gln583His)
c.1455A>C (p.Gln485His)
c.975A>C (p.Gln325His)
c.957A>C (p.Gln319His)
c.1908A>C (p.Gln636His)
c.1779A>C (p.Gln593His)
c.1719A>C (p.Gln573His)
c.2004A>C (p.Gln668His)
c.1974A>C (p.Gln658His)
c.1815A>C (p.Gln605His)
c.1767A>C (p.Gln589His)
c.1590A>C (p.Gln530His)
c.1542A>C (p.Gln514His)
c.933A>C (p.Gln311His)
n.2028A>C
c.1584A>C (p.Gln528His)
c.1641A>C (p.Gln547His)
c.1680A>C (p.Gln560His)
c.1347A>C (p.Gln449His)
n.1920A>C
n.1811A>C
1g.243426451A>GCA424346853SDCCAG8c.1878A>G (p.Gln626=)
c.981A>G (p.Gln327=)
n.85A>G
c.1749A>G (p.Gln583=)
c.1455A>G (p.Gln485=)
c.975A>G (p.Gln325=)
c.957A>G (p.Gln319=)
c.1908A>G (p.Gln636=)
c.1779A>G (p.Gln593=)
c.1719A>G (p.Gln573=)
c.2004A>G (p.Gln668=)
c.1974A>G (p.Gln658=)
c.1815A>G (p.Gln605=)
c.1767A>G (p.Gln589=)
c.1590A>G (p.Gln530=)
c.1542A>G (p.Gln514=)
c.933A>G (p.Gln311=)
n.2028A>G
c.1584A>G (p.Gln528=)
c.1641A>G (p.Gln547=)
c.1680A>G (p.Gln560=)
c.1347A>G (p.Gln449=)
n.1920A>G
n.1811A>G
 dbSNP
1g.243426451A>TCA345667690SDCCAG8c.1878A>T (p.Gln626His)
c.981A>T (p.Gln327His)
n.85A>T
c.1749A>T (p.Gln583His)
c.1455A>T (p.Gln485His)
c.975A>T (p.Gln325His)
c.957A>T (p.Gln319His)
c.1908A>T (p.Gln636His)
c.1779A>T (p.Gln593His)
c.1719A>T (p.Gln573His)
c.2004A>T (p.Gln668His)
c.1974A>T (p.Gln658His)
c.1815A>T (p.Gln605His)
c.1767A>T (p.Gln589His)
c.1590A>T (p.Gln530His)
c.1542A>T (p.Gln514His)
c.933A>T (p.Gln311His)
n.2028A>T
c.1584A>T (p.Gln528His)
c.1641A>T (p.Gln547His)
c.1680A>T (p.Gln560His)
c.1347A>T (p.Gln449His)
n.1920A>T
n.1811A>T
1g.243426452G>ACA345667691SDCCAG8c.1879G>A (p.Glu627Lys)
c.982G>A (p.Glu328Lys)
n.86G>A
c.1750G>A (p.Glu584Lys)
c.1456G>A (p.Glu486Lys)
c.976G>A (p.Glu326Lys)
c.958G>A (p.Glu320Lys)
c.1909G>A (p.Glu637Lys)
c.1780G>A (p.Glu594Lys)
c.1720G>A (p.Glu574Lys)
c.2005G>A (p.Glu669Lys)
c.1975G>A (p.Glu659Lys)
c.1816G>A (p.Glu606Lys)
c.1768G>A (p.Glu590Lys)
c.1591G>A (p.Glu531Lys)
c.1543G>A (p.Glu515Lys)
c.934G>A (p.Glu312Lys)
n.2029G>A
c.1585G>A (p.Glu529Lys)
c.1642G>A (p.Glu548Lys)
c.1681G>A (p.Glu561Lys)
c.1348G>A (p.Glu450Lys)
n.1921G>A
n.1812G>A
1g.243426452G>CCA345667692SDCCAG8c.1879G>C (p.Glu627Gln)
c.982G>C (p.Glu328Gln)
n.86G>C
c.1750G>C (p.Glu584Gln)
c.1456G>C (p.Glu486Gln)
c.976G>C (p.Glu326Gln)
c.958G>C (p.Glu320Gln)
c.1909G>C (p.Glu637Gln)
c.1780G>C (p.Glu594Gln)
c.1720G>C (p.Glu574Gln)
c.2005G>C (p.Glu669Gln)
c.1975G>C (p.Glu659Gln)
c.1816G>C (p.Glu606Gln)
c.1768G>C (p.Glu590Gln)
c.1591G>C (p.Glu531Gln)
c.1543G>C (p.Glu515Gln)
c.934G>C (p.Glu312Gln)
n.2029G>C
c.1585G>C (p.Glu529Gln)
c.1642G>C (p.Glu548Gln)
c.1681G>C (p.Glu561Gln)
c.1348G>C (p.Glu450Gln)
n.1921G>C
n.1812G>C
1g.243426452G>TCA345667693SDCCAG8c.1879G>T (p.Glu627Ter)
c.982G>T (p.Glu328Ter)
n.86G>T
c.1750G>T (p.Glu584Ter)
c.1456G>T (p.Glu486Ter)
c.976G>T (p.Glu326Ter)
c.958G>T (p.Glu320Ter)
c.1909G>T (p.Glu637Ter)
c.1780G>T (p.Glu594Ter)
c.1720G>T (p.Glu574Ter)
c.2005G>T (p.Glu669Ter)
c.1975G>T (p.Glu659Ter)
c.1816G>T (p.Glu606Ter)
c.1768G>T (p.Glu590Ter)
c.1591G>T (p.Glu531Ter)
c.1543G>T (p.Glu515Ter)
c.934G>T (p.Glu312Ter)
n.2029G>T
c.1585G>T (p.Glu529Ter)
c.1642G>T (p.Glu548Ter)
c.1681G>T (p.Glu561Ter)
c.1348G>T (p.Glu450Ter)
n.1921G>T
n.1812G>T
1g.243426453A=CA1230390593SDCCAG8c.1880A= (p.Glu627=)
c.983A= (p.Glu328=)
n.87A=
c.1751A= (p.Glu584=)
c.1457A= (p.Glu486=)
c.977A= (p.Glu326=)
c.959A= (p.Glu320=)
c.1910A= (p.Glu637=)
c.1781A= (p.Glu594=)
c.1721A= (p.Glu574=)
c.2006A= (p.Glu669=)
c.1976A= (p.Glu659=)
c.1817A= (p.Glu606=)
c.1769A= (p.Glu590=)
c.1592A= (p.Glu531=)
c.1544A= (p.Glu515=)
c.935A= (p.Glu312=)
n.2030A=
c.1586A= (p.Glu529=)
c.1643A= (p.Glu548=)
c.1682A= (p.Glu561=)
c.1349A= (p.Glu450=)
n.1922A=
n.1813A=
1g.243426453A>CCA345667694SDCCAG8c.1880A>C (p.Glu627Ala)
c.983A>C (p.Glu328Ala)
n.87A>C
c.1751A>C (p.Glu584Ala)
c.1457A>C (p.Glu486Ala)
c.977A>C (p.Glu326Ala)
c.959A>C (p.Glu320Ala)
c.1910A>C (p.Glu637Ala)
c.1781A>C (p.Glu594Ala)
c.1721A>C (p.Glu574Ala)
c.2006A>C (p.Glu669Ala)
c.1976A>C (p.Glu659Ala)
c.1817A>C (p.Glu606Ala)
c.1769A>C (p.Glu590Ala)
c.1592A>C (p.Glu531Ala)
c.1544A>C (p.Glu515Ala)
c.935A>C (p.Glu312Ala)
n.2030A>C
c.1586A>C (p.Glu529Ala)
c.1643A>C (p.Glu548Ala)
c.1682A>C (p.Glu561Ala)
c.1349A>C (p.Glu450Ala)
n.1922A>C
n.1813A>C
1g.243426453A>GCA345667695SDCCAG8c.1880A>G (p.Glu627Gly)
c.983A>G (p.Glu328Gly)
n.87A>G
c.1751A>G (p.Glu584Gly)
c.1457A>G (p.Glu486Gly)
c.977A>G (p.Glu326Gly)
c.959A>G (p.Glu320Gly)
c.1910A>G (p.Glu637Gly)
c.1781A>G (p.Glu594Gly)
c.1721A>G (p.Glu574Gly)
c.2006A>G (p.Glu669Gly)
c.1976A>G (p.Glu659Gly)
c.1817A>G (p.Glu606Gly)
c.1769A>G (p.Glu590Gly)
c.1592A>G (p.Glu531Gly)
c.1544A>G (p.Glu515Gly)
c.935A>G (p.Glu312Gly)
n.2030A>G
c.1586A>G (p.Glu529Gly)
c.1643A>G (p.Glu548Gly)
c.1682A>G (p.Glu561Gly)
c.1349A>G (p.Glu450Gly)
n.1922A>G
n.1813A>G
1g.243426453A>TCA345667696SDCCAG8c.1880A>T (p.Glu627Val)
c.983A>T (p.Glu328Val)
n.87A>T
c.1751A>T (p.Glu584Val)
c.1457A>T (p.Glu486Val)
c.977A>T (p.Glu326Val)
c.959A>T (p.Glu320Val)
c.1910A>T (p.Glu637Val)
c.1781A>T (p.Glu594Val)
c.1721A>T (p.Glu574Val)
c.2006A>T (p.Glu669Val)
c.1976A>T (p.Glu659Val)
c.1817A>T (p.Glu606Val)
c.1769A>T (p.Glu590Val)
c.1592A>T (p.Glu531Val)
c.1544A>T (p.Glu515Val)
c.935A>T (p.Glu312Val)
n.2030A>T
c.1586A>T (p.Glu529Val)
c.1643A>T (p.Glu548Val)
c.1682A>T (p.Glu561Val)
c.1349A>T (p.Glu450Val)
n.1922A>T
n.1813A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.243426458dupCA2739292114SDCCAG8c.1885dup (p.Arg629LysfsTer5)
c.988dup (p.Arg330LysfsTer5)
n.92dup
c.1756dup (p.Arg586LysfsTer5)
c.1462dup (p.Arg488LysfsTer5)
c.982dup (p.Arg328LysfsTer5)
c.964dup (p.Arg322LysfsTer5)
c.1915dup (p.Arg639LysfsTer5)
c.1786dup (p.Arg596LysfsTer5)
c.1726dup (p.Arg576LysfsTer5)
c.2011dup (p.Arg671LysfsTer5)
c.1981dup (p.Arg661LysfsTer5)
c.1822dup (p.Arg608LysfsTer5)
c.1774dup (p.Arg592LysfsTer5)
c.1597dup (p.Arg533LysfsTer5)
c.1549dup (p.Arg517LysfsTer5)
c.940dup (p.Arg314LysfsTer5)
n.2035dup
c.1591dup (p.Arg531LysfsTer5)
c.1648dup (p.Arg550LysfsTer5)
c.1687dup (p.Arg563LysfsTer5)
c.1354dup (p.Arg452LysfsTer5)
n.1927dup
n.1818dup
1g.243426458delCA2651305519SDCCAG8c.1885del (p.Arg629GlyfsTer?)
c.988del (p.Arg330GlyfsTer?)
n.92del
c.1756del (p.Arg586GlyfsTer?)
c.1462del (p.Arg488GlyfsTer?)
c.982del (p.Arg328GlyfsTer?)
c.964del (p.Arg322GlyfsTer?)
c.1915del (p.Arg639GlyfsTer?)
c.1786del (p.Arg596GlyfsTer?)
c.1726del (p.Arg576GlyfsTer?)
c.2011del (p.Arg671GlyfsTer?)
c.1981del (p.Arg661GlyfsTer?)
c.1822del (p.Arg608GlyfsTer?)
c.1774del (p.Arg592GlyfsTer?)
c.1597del (p.Arg533GlyfsTer?)
c.1549del (p.Arg517GlyfsTer?)
c.940del (p.Arg314GlyfsTer?)
n.2035del
c.1591del (p.Arg531GlyfsTer?)
c.1648del (p.Arg550GlyfsTer?)
c.1687del (p.Arg563GlyfsTer?)
c.1354del (p.Arg452GlyfsTer?)
n.1927del
n.1818del
 gnomAD v4
1g.243426454A>CCA345667697SDCCAG8c.1881A>C (p.Glu627Asp)
c.984A>C (p.Glu328Asp)
n.88A>C
c.1752A>C (p.Glu584Asp)
c.1458A>C (p.Glu486Asp)
c.978A>C (p.Glu326Asp)
c.960A>C (p.Glu320Asp)
c.1911A>C (p.Glu637Asp)
c.1782A>C (p.Glu594Asp)
c.1722A>C (p.Glu574Asp)
c.2007A>C (p.Glu669Asp)
c.1977A>C (p.Glu659Asp)
c.1818A>C (p.Glu606Asp)
c.1770A>C (p.Glu590Asp)
c.1593A>C (p.Glu531Asp)
c.1545A>C (p.Glu515Asp)
c.936A>C (p.Glu312Asp)
n.2031A>C
c.1587A>C (p.Glu529Asp)
c.1644A>C (p.Glu548Asp)
c.1683A>C (p.Glu561Asp)
c.1350A>C (p.Glu450Asp)
n.1923A>C
n.1814A>C
1g.243426454A>GCA424346854SDCCAG8c.1881A>G (p.Glu627=)
c.984A>G (p.Glu328=)
n.88A>G
c.1752A>G (p.Glu584=)
c.1458A>G (p.Glu486=)
c.978A>G (p.Glu326=)
c.960A>G (p.Glu320=)
c.1911A>G (p.Glu637=)
c.1782A>G (p.Glu594=)
c.1722A>G (p.Glu574=)
c.2007A>G (p.Glu669=)
c.1977A>G (p.Glu659=)
c.1818A>G (p.Glu606=)
c.1770A>G (p.Glu590=)
c.1593A>G (p.Glu531=)
c.1545A>G (p.Glu515=)
c.936A>G (p.Glu312=)
n.2031A>G
c.1587A>G (p.Glu529=)
c.1644A>G (p.Glu548=)
c.1683A>G (p.Glu561=)
c.1350A>G (p.Glu450=)
n.1923A>G
n.1814A>G
1g.243426454A>TCA345667698SDCCAG8c.1881A>T (p.Glu627Asp)
c.984A>T (p.Glu328Asp)
n.88A>T
c.1752A>T (p.Glu584Asp)
c.1458A>T (p.Glu486Asp)
c.978A>T (p.Glu326Asp)
c.960A>T (p.Glu320Asp)
c.1911A>T (p.Glu637Asp)
c.1782A>T (p.Glu594Asp)
c.1722A>T (p.Glu574Asp)
c.2007A>T (p.Glu669Asp)
c.1977A>T (p.Glu659Asp)
c.1818A>T (p.Glu606Asp)
c.1770A>T (p.Glu590Asp)
c.1593A>T (p.Glu531Asp)
c.1545A>T (p.Glu515Asp)
c.936A>T (p.Glu312Asp)
n.2031A>T
c.1587A>T (p.Glu529Asp)
c.1644A>T (p.Glu548Asp)
c.1683A>T (p.Glu561Asp)
c.1350A>T (p.Glu450Asp)
n.1923A>T
n.1814A>T
1g.243426455A>CCA345667699SDCCAG8c.1882A>C (p.Lys628Gln)
c.985A>C (p.Lys329Gln)
n.89A>C
c.1753A>C (p.Lys585Gln)
c.1459A>C (p.Lys487Gln)
c.979A>C (p.Lys327Gln)
c.961A>C (p.Lys321Gln)
c.1912A>C (p.Lys638Gln)
c.1783A>C (p.Lys595Gln)
c.1723A>C (p.Lys575Gln)
c.2008A>C (p.Lys670Gln)
c.1978A>C (p.Lys660Gln)
c.1819A>C (p.Lys607Gln)
c.1771A>C (p.Lys591Gln)
c.1594A>C (p.Lys532Gln)
c.1546A>C (p.Lys516Gln)
c.937A>C (p.Lys313Gln)
n.2032A>C
c.1588A>C (p.Lys530Gln)
c.1645A>C (p.Lys549Gln)
c.1684A>C (p.Lys562Gln)
c.1351A>C (p.Lys451Gln)
n.1924A>C
n.1815A>C
1g.243426455A>GCA345667701SDCCAG8c.1882A>G (p.Lys628Glu)
c.985A>G (p.Lys329Glu)
n.89A>G
c.1753A>G (p.Lys585Glu)
c.1459A>G (p.Lys487Glu)
c.979A>G (p.Lys327Glu)
c.961A>G (p.Lys321Glu)
c.1912A>G (p.Lys638Glu)
c.1783A>G (p.Lys595Glu)
c.1723A>G (p.Lys575Glu)
c.2008A>G (p.Lys670Glu)
c.1978A>G (p.Lys660Glu)
c.1819A>G (p.Lys607Glu)
c.1771A>G (p.Lys591Glu)
c.1594A>G (p.Lys532Glu)
c.1546A>G (p.Lys516Glu)
c.937A>G (p.Lys313Glu)
n.2032A>G
c.1588A>G (p.Lys530Glu)
c.1645A>G (p.Lys549Glu)
c.1684A>G (p.Lys562Glu)
c.1351A>G (p.Lys451Glu)
n.1924A>G
n.1815A>G
1g.243426455A>TCA345667700SDCCAG8c.1882A>T (p.Lys628Ter)
c.985A>T (p.Lys329Ter)
n.89A>T
c.1753A>T (p.Lys585Ter)
c.1459A>T (p.Lys487Ter)
c.979A>T (p.Lys327Ter)
c.961A>T (p.Lys321Ter)
c.1912A>T (p.Lys638Ter)
c.1783A>T (p.Lys595Ter)
c.1723A>T (p.Lys575Ter)
c.2008A>T (p.Lys670Ter)
c.1978A>T (p.Lys660Ter)
c.1819A>T (p.Lys607Ter)
c.1771A>T (p.Lys591Ter)
c.1594A>T (p.Lys532Ter)
c.1546A>T (p.Lys516Ter)
c.937A>T (p.Lys313Ter)
n.2032A>T
c.1588A>T (p.Lys530Ter)
c.1645A>T (p.Lys549Ter)
c.1684A>T (p.Lys562Ter)
c.1351A>T (p.Lys451Ter)
n.1924A>T
n.1815A>T
 dbSNP
1g.243426456A>CCA345667702SDCCAG8c.1883A>C (p.Lys628Thr)
c.986A>C (p.Lys329Thr)
n.90A>C
c.1754A>C (p.Lys585Thr)
c.1460A>C (p.Lys487Thr)
c.980A>C (p.Lys327Thr)
c.962A>C (p.Lys321Thr)
c.1913A>C (p.Lys638Thr)
c.1784A>C (p.Lys595Thr)
c.1724A>C (p.Lys575Thr)
c.2009A>C (p.Lys670Thr)
c.1979A>C (p.Lys660Thr)
c.1820A>C (p.Lys607Thr)
c.1772A>C (p.Lys591Thr)
c.1595A>C (p.Lys532Thr)
c.1547A>C (p.Lys516Thr)
c.938A>C (p.Lys313Thr)
n.2033A>C
c.1589A>C (p.Lys530Thr)
c.1646A>C (p.Lys549Thr)
c.1685A>C (p.Lys562Thr)
c.1352A>C (p.Lys451Thr)
n.1925A>C
n.1816A>C
1g.243426456A>GCA345667703SDCCAG8c.1883A>G (p.Lys628Arg)
c.986A>G (p.Lys329Arg)
n.90A>G
c.1754A>G (p.Lys585Arg)
c.1460A>G (p.Lys487Arg)
c.980A>G (p.Lys327Arg)
c.962A>G (p.Lys321Arg)
c.1913A>G (p.Lys638Arg)
c.1784A>G (p.Lys595Arg)
c.1724A>G (p.Lys575Arg)
c.2009A>G (p.Lys670Arg)
c.1979A>G (p.Lys660Arg)
c.1820A>G (p.Lys607Arg)
c.1772A>G (p.Lys591Arg)
c.1595A>G (p.Lys532Arg)
c.1547A>G (p.Lys516Arg)
c.938A>G (p.Lys313Arg)
n.2033A>G
c.1589A>G (p.Lys530Arg)
c.1646A>G (p.Lys549Arg)
c.1685A>G (p.Lys562Arg)
c.1352A>G (p.Lys451Arg)
n.1925A>G
n.1816A>G
1g.243426456A>TCA345667704SDCCAG8c.1883A>T (p.Lys628Ile)
c.986A>T (p.Lys329Ile)
n.90A>T
c.1754A>T (p.Lys585Ile)
c.1460A>T (p.Lys487Ile)
c.980A>T (p.Lys327Ile)
c.962A>T (p.Lys321Ile)
c.1913A>T (p.Lys638Ile)
c.1784A>T (p.Lys595Ile)
c.1724A>T (p.Lys575Ile)
c.2009A>T (p.Lys670Ile)
c.1979A>T (p.Lys660Ile)
c.1820A>T (p.Lys607Ile)
c.1772A>T (p.Lys591Ile)
c.1595A>T (p.Lys532Ile)
c.1547A>T (p.Lys516Ile)
c.938A>T (p.Lys313Ile)
n.2033A>T
c.1589A>T (p.Lys530Ile)
c.1646A>T (p.Lys549Ile)
c.1685A>T (p.Lys562Ile)
c.1352A>T (p.Lys451Ile)
n.1925A>T
n.1816A>T
1g.243426457A=CA1230390594SDCCAG8c.1884A= (p.Lys628=)
c.987A= (p.Lys329=)
n.91A=
c.1755A= (p.Lys585=)
c.1461A= (p.Lys487=)
c.981A= (p.Lys327=)
c.963A= (p.Lys321=)
c.1914A= (p.Lys638=)
c.1785A= (p.Lys595=)
c.1725A= (p.Lys575=)
c.2010A= (p.Lys670=)
c.1980A= (p.Lys660=)
c.1821A= (p.Lys607=)
c.1773A= (p.Lys591=)
c.1596A= (p.Lys532=)
c.1548A= (p.Lys516=)
c.939A= (p.Lys313=)
n.2034A=
c.1590A= (p.Lys530=)
c.1647A= (p.Lys549=)
c.1686A= (p.Lys562=)
c.1353A= (p.Lys451=)
n.1926A=
n.1817A=
1g.243426457A>CCA345667705SDCCAG8c.1884A>C (p.Lys628Asn)
c.987A>C (p.Lys329Asn)
n.91A>C
c.1755A>C (p.Lys585Asn)
c.1461A>C (p.Lys487Asn)
c.981A>C (p.Lys327Asn)
c.963A>C (p.Lys321Asn)
c.1914A>C (p.Lys638Asn)
c.1785A>C (p.Lys595Asn)
c.1725A>C (p.Lys575Asn)
c.2010A>C (p.Lys670Asn)
c.1980A>C (p.Lys660Asn)
c.1821A>C (p.Lys607Asn)
c.1773A>C (p.Lys591Asn)
c.1596A>C (p.Lys532Asn)
c.1548A>C (p.Lys516Asn)
c.939A>C (p.Lys313Asn)
n.2034A>C
c.1590A>C (p.Lys530Asn)
c.1647A>C (p.Lys549Asn)
c.1686A>C (p.Lys562Asn)
c.1353A>C (p.Lys451Asn)
n.1926A>C
n.1817A>C
 dbSNP
1g.243426457A>GCA424346855SDCCAG8c.1884A>G (p.Lys628=)
c.987A>G (p.Lys329=)
n.91A>G
c.1755A>G (p.Lys585=)
c.1461A>G (p.Lys487=)
c.981A>G (p.Lys327=)
c.963A>G (p.Lys321=)
c.1914A>G (p.Lys638=)
c.1785A>G (p.Lys595=)
c.1725A>G (p.Lys575=)
c.2010A>G (p.Lys670=)
c.1980A>G (p.Lys660=)
c.1821A>G (p.Lys607=)
c.1773A>G (p.Lys591=)
c.1596A>G (p.Lys532=)
c.1548A>G (p.Lys516=)
c.939A>G (p.Lys313=)
n.2034A>G
c.1590A>G (p.Lys530=)
c.1647A>G (p.Lys549=)
c.1686A>G (p.Lys562=)
c.1353A>G (p.Lys451=)
n.1926A>G
n.1817A>G
1g.243426457A>TCA345667706SDCCAG8c.1884A>T (p.Lys628Asn)
c.987A>T (p.Lys329Asn)
n.91A>T
c.1755A>T (p.Lys585Asn)
c.1461A>T (p.Lys487Asn)
c.981A>T (p.Lys327Asn)
c.963A>T (p.Lys321Asn)
c.1914A>T (p.Lys638Asn)
c.1785A>T (p.Lys595Asn)
c.1725A>T (p.Lys575Asn)
c.2010A>T (p.Lys670Asn)
c.1980A>T (p.Lys660Asn)
c.1821A>T (p.Lys607Asn)
c.1773A>T (p.Lys591Asn)
c.1596A>T (p.Lys532Asn)
c.1548A>T (p.Lys516Asn)
c.939A>T (p.Lys313Asn)
n.2034A>T
c.1590A>T (p.Lys530Asn)
c.1647A>T (p.Lys549Asn)
c.1686A>T (p.Lys562Asn)
c.1353A>T (p.Lys451Asn)
n.1926A>T
n.1817A>T
1g.243426458A>CCA424346856SDCCAG8c.1885A>C (p.Arg629=)
c.988A>C (p.Arg330=)
n.92A>C
c.1756A>C (p.Arg586=)
c.1462A>C (p.Arg488=)
c.982A>C (p.Arg328=)
c.964A>C (p.Arg322=)
c.1915A>C (p.Arg639=)
c.1786A>C (p.Arg596=)
c.1726A>C (p.Arg576=)
c.2011A>C (p.Arg671=)
c.1981A>C (p.Arg661=)
c.1822A>C (p.Arg608=)
c.1774A>C (p.Arg592=)
c.1597A>C (p.Arg533=)
c.1549A>C (p.Arg517=)
c.940A>C (p.Arg314=)
n.2035A>C
c.1591A>C (p.Arg531=)
c.1648A>C (p.Arg550=)
c.1687A>C (p.Arg563=)
c.1354A>C (p.Arg452=)
n.1927A>C
n.1818A>C
1g.243426458A>GCA345667707SDCCAG8c.1885A>G (p.Arg629Gly)
c.988A>G (p.Arg330Gly)
n.92A>G
c.1756A>G (p.Arg586Gly)
c.1462A>G (p.Arg488Gly)
c.982A>G (p.Arg328Gly)
c.964A>G (p.Arg322Gly)
c.1915A>G (p.Arg639Gly)
c.1786A>G (p.Arg596Gly)
c.1726A>G (p.Arg576Gly)
c.2011A>G (p.Arg671Gly)
c.1981A>G (p.Arg661Gly)
c.1822A>G (p.Arg608Gly)
c.1774A>G (p.Arg592Gly)
c.1597A>G (p.Arg533Gly)
c.1549A>G (p.Arg517Gly)
c.940A>G (p.Arg314Gly)
n.2035A>G
c.1591A>G (p.Arg531Gly)
c.1648A>G (p.Arg550Gly)
c.1687A>G (p.Arg563Gly)
c.1354A>G (p.Arg452Gly)
n.1927A>G
n.1818A>G
1g.243426458A>TCA345667708SDCCAG8c.1885A>T (p.Arg629Trp)
c.988A>T (p.Arg330Trp)
n.92A>T
c.1756A>T (p.Arg586Trp)
c.1462A>T (p.Arg488Trp)
c.982A>T (p.Arg328Trp)
c.964A>T (p.Arg322Trp)
c.1915A>T (p.Arg639Trp)
c.1786A>T (p.Arg596Trp)
c.1726A>T (p.Arg576Trp)
c.2011A>T (p.Arg671Trp)
c.1981A>T (p.Arg661Trp)
c.1822A>T (p.Arg608Trp)
c.1774A>T (p.Arg592Trp)
c.1597A>T (p.Arg533Trp)
c.1549A>T (p.Arg517Trp)
c.940A>T (p.Arg314Trp)
n.2035A>T
c.1591A>T (p.Arg531Trp)
c.1648A>T (p.Arg550Trp)
c.1687A>T (p.Arg563Trp)
c.1354A>T (p.Arg452Trp)
n.1927A>T
n.1818A>T
1g.243426459G>ACA345667709SDCCAG8c.1886G>A (p.Arg629Lys)
c.989G>A (p.Arg330Lys)
n.93G>A
c.1757G>A (p.Arg586Lys)
c.1463G>A (p.Arg488Lys)
c.983G>A (p.Arg328Lys)
c.965G>A (p.Arg322Lys)
c.1916G>A (p.Arg639Lys)
c.1787G>A (p.Arg596Lys)
c.1727G>A (p.Arg576Lys)
c.2012G>A (p.Arg671Lys)
c.1982G>A (p.Arg661Lys)
c.1823G>A (p.Arg608Lys)
c.1775G>A (p.Arg592Lys)
c.1598G>A (p.Arg533Lys)
c.1550G>A (p.Arg517Lys)
c.941G>A (p.Arg314Lys)
n.2036G>A
c.1592G>A (p.Arg531Lys)
c.1649G>A (p.Arg550Lys)
c.1688G>A (p.Arg563Lys)
c.1355G>A (p.Arg452Lys)
n.1928G>A
n.1819G>A
1g.243426459G>CCA1483767SDCCAG8c.1886G>C (p.Arg629Thr)
c.989G>C (p.Arg330Thr)
n.93G>C
c.1757G>C (p.Arg586Thr)
c.1463G>C (p.Arg488Thr)
c.983G>C (p.Arg328Thr)
c.965G>C (p.Arg322Thr)
c.1916G>C (p.Arg639Thr)
c.1787G>C (p.Arg596Thr)
c.1727G>C (p.Arg576Thr)
c.2012G>C (p.Arg671Thr)
c.1982G>C (p.Arg661Thr)
c.1823G>C (p.Arg608Thr)
c.1775G>C (p.Arg592Thr)
c.1598G>C (p.Arg533Thr)
c.1550G>C (p.Arg517Thr)
c.941G>C (p.Arg314Thr)
n.2036G>C
c.1592G>C (p.Arg531Thr)
c.1649G>C (p.Arg550Thr)
c.1688G>C (p.Arg563Thr)
c.1355G>C (p.Arg452Thr)
n.1928G>C
n.1819G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426459G=CA1145882282SDCCAG8c.1886G= (p.Arg629=)
c.989G= (p.Arg330=)
n.93G=
c.1757G= (p.Arg586=)
c.1463G= (p.Arg488=)
c.983G= (p.Arg328=)
c.965G= (p.Arg322=)
c.1916G= (p.Arg639=)
c.1787G= (p.Arg596=)
c.1727G= (p.Arg576=)
c.2012G= (p.Arg671=)
c.1982G= (p.Arg661=)
c.1823G= (p.Arg608=)
c.1775G= (p.Arg592=)
c.1598G= (p.Arg533=)
c.1550G= (p.Arg517=)
c.941G= (p.Arg314=)
n.2036G=
c.1592G= (p.Arg531=)
c.1649G= (p.Arg550=)
c.1688G= (p.Arg563=)
c.1355G= (p.Arg452=)
n.1928G=
n.1819G=
1g.243426459G>TCA345667710SDCCAG8c.1886G>T (p.Arg629Met)
c.989G>T (p.Arg330Met)
n.93G>T
c.1757G>T (p.Arg586Met)
c.1463G>T (p.Arg488Met)
c.983G>T (p.Arg328Met)
c.965G>T (p.Arg322Met)
c.1916G>T (p.Arg639Met)
c.1787G>T (p.Arg596Met)
c.1727G>T (p.Arg576Met)
c.2012G>T (p.Arg671Met)
c.1982G>T (p.Arg661Met)
c.1823G>T (p.Arg608Met)
c.1775G>T (p.Arg592Met)
c.1598G>T (p.Arg533Met)
c.1550G>T (p.Arg517Met)
c.941G>T (p.Arg314Met)
n.2036G>T
c.1592G>T (p.Arg531Met)
c.1649G>T (p.Arg550Met)
c.1688G>T (p.Arg563Met)
c.1355G>T (p.Arg452Met)
n.1928G>T
n.1819G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.243426460G>ACA424346857SDCCAG8c.1887G>A (p.Arg629=)
c.990G>A (p.Arg330=)
n.94G>A
c.1758G>A (p.Arg586=)
c.1464G>A (p.Arg488=)
c.984G>A (p.Arg328=)
c.966G>A (p.Arg322=)
c.1917G>A (p.Arg639=)
c.1788G>A (p.Arg596=)
c.1728G>A (p.Arg576=)
c.2013G>A (p.Arg671=)
c.1983G>A (p.Arg661=)
c.1824G>A (p.Arg608=)
c.1776G>A (p.Arg592=)
c.1599G>A (p.Arg533=)
c.1551G>A (p.Arg517=)
c.942G>A (p.Arg314=)
n.2037G>A
c.1593G>A (p.Arg531=)
c.1650G>A (p.Arg550=)
c.1689G>A (p.Arg563=)
c.1356G>A (p.Arg452=)
n.1929G>A
n.1820G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.243426460G>CCA345667711SDCCAG8c.1887G>C (p.Arg629Ser)
c.990G>C (p.Arg330Ser)
n.94G>C
c.1758G>C (p.Arg586Ser)
c.1464G>C (p.Arg488Ser)
c.984G>C (p.Arg328Ser)
c.966G>C (p.Arg322Ser)
c.1917G>C (p.Arg639Ser)
c.1788G>C (p.Arg596Ser)
c.1728G>C (p.Arg576Ser)
c.2013G>C (p.Arg671Ser)
c.1983G>C (p.Arg661Ser)
c.1824G>C (p.Arg608Ser)
c.1776G>C (p.Arg592Ser)
c.1599G>C (p.Arg533Ser)
c.1551G>C (p.Arg517Ser)
c.942G>C (p.Arg314Ser)
n.2037G>C
c.1593G>C (p.Arg531Ser)
c.1650G>C (p.Arg550Ser)
c.1689G>C (p.Arg563Ser)
c.1356G>C (p.Arg452Ser)
n.1929G>C
n.1820G>C
1g.243426460G=CA1230390595SDCCAG8c.1887G= (p.Arg629=)
c.990G= (p.Arg330=)
n.94G=
c.1758G= (p.Arg586=)
c.1464G= (p.Arg488=)
c.984G= (p.Arg328=)
c.966G= (p.Arg322=)
c.1917G= (p.Arg639=)
c.1788G= (p.Arg596=)
c.1728G= (p.Arg576=)
c.2013G= (p.Arg671=)
c.1983G= (p.Arg661=)
c.1824G= (p.Arg608=)
c.1776G= (p.Arg592=)
c.1599G= (p.Arg533=)
c.1551G= (p.Arg517=)
c.942G= (p.Arg314=)
n.2037G=
c.1593G= (p.Arg531=)
c.1650G= (p.Arg550=)
c.1689G= (p.Arg563=)
c.1356G= (p.Arg452=)
n.1929G=
n.1820G=
1g.243426460G>TCA1483768SDCCAG8c.1887G>T (p.Arg629Ser)
c.990G>T (p.Arg330Ser)
n.94G>T
c.1758G>T (p.Arg586Ser)
c.1464G>T (p.Arg488Ser)
c.984G>T (p.Arg328Ser)
c.966G>T (p.Arg322Ser)
c.1917G>T (p.Arg639Ser)
c.1788G>T (p.Arg596Ser)
c.1728G>T (p.Arg576Ser)
c.2013G>T (p.Arg671Ser)
c.1983G>T (p.Arg661Ser)
c.1824G>T (p.Arg608Ser)
c.1776G>T (p.Arg592Ser)
c.1599G>T (p.Arg533Ser)
c.1551G>T (p.Arg517Ser)
c.942G>T (p.Arg314Ser)
n.2037G>T
c.1593G>T (p.Arg531Ser)
c.1650G>T (p.Arg550Ser)
c.1689G>T (p.Arg563Ser)
c.1356G>T (p.Arg452Ser)
n.1929G>T
n.1820G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426461T>ACA345667713SDCCAG8c.1888T>A (p.Tyr630Asn)
c.991T>A (p.Tyr331Asn)
n.95T>A
c.1759T>A (p.Tyr587Asn)
c.1465T>A (p.Tyr489Asn)
c.985T>A (p.Tyr329Asn)
c.967T>A (p.Tyr323Asn)
c.1918T>A (p.Tyr640Asn)
c.1789T>A (p.Tyr597Asn)
c.1729T>A (p.Tyr577Asn)
c.2014T>A (p.Tyr672Asn)
c.1984T>A (p.Tyr662Asn)
c.1825T>A (p.Tyr609Asn)
c.1777T>A (p.Tyr593Asn)
c.1600T>A (p.Tyr534Asn)
c.1552T>A (p.Tyr518Asn)
c.943T>A (p.Tyr315Asn)
n.2038T>A
c.1594T>A (p.Tyr532Asn)
c.1651T>A (p.Tyr551Asn)
c.1690T>A (p.Tyr564Asn)
c.1357T>A (p.Tyr453Asn)
n.1930T>A
n.1821T>A
1g.243426461T>CCA1483769SDCCAG8c.1888T>C (p.Tyr630His)
c.991T>C (p.Tyr331His)
n.95T>C
c.1759T>C (p.Tyr587His)
c.1465T>C (p.Tyr489His)
c.985T>C (p.Tyr329His)
c.967T>C (p.Tyr323His)
c.1918T>C (p.Tyr640His)
c.1789T>C (p.Tyr597His)
c.1729T>C (p.Tyr577His)
c.2014T>C (p.Tyr672His)
c.1984T>C (p.Tyr662His)
c.1825T>C (p.Tyr609His)
c.1777T>C (p.Tyr593His)
c.1600T>C (p.Tyr534His)
c.1552T>C (p.Tyr518His)
c.943T>C (p.Tyr315His)
n.2038T>C
c.1594T>C (p.Tyr532His)
c.1651T>C (p.Tyr551His)
c.1690T>C (p.Tyr564His)
c.1357T>C (p.Tyr453His)
n.1930T>C
n.1821T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426461T>GCA345667712SDCCAG8c.1888T>G (p.Tyr630Asp)
c.991T>G (p.Tyr331Asp)
n.95T>G
c.1759T>G (p.Tyr587Asp)
c.1465T>G (p.Tyr489Asp)
c.985T>G (p.Tyr329Asp)
c.967T>G (p.Tyr323Asp)
c.1918T>G (p.Tyr640Asp)
c.1789T>G (p.Tyr597Asp)
c.1729T>G (p.Tyr577Asp)
c.2014T>G (p.Tyr672Asp)
c.1984T>G (p.Tyr662Asp)
c.1825T>G (p.Tyr609Asp)
c.1777T>G (p.Tyr593Asp)
c.1600T>G (p.Tyr534Asp)
c.1552T>G (p.Tyr518Asp)
c.943T>G (p.Tyr315Asp)
n.2038T>G
c.1594T>G (p.Tyr532Asp)
c.1651T>G (p.Tyr551Asp)
c.1690T>G (p.Tyr564Asp)
c.1357T>G (p.Tyr453Asp)
n.1930T>G
n.1821T>G
1g.243426461T=CA1141601957SDCCAG8c.1888T= (p.Tyr630=)
c.991T= (p.Tyr331=)
n.95T=
c.1759T= (p.Tyr587=)
c.1465T= (p.Tyr489=)
c.985T= (p.Tyr329=)
c.967T= (p.Tyr323=)
c.1918T= (p.Tyr640=)
c.1789T= (p.Tyr597=)
c.1729T= (p.Tyr577=)
c.2014T= (p.Tyr672=)
c.1984T= (p.Tyr662=)
c.1825T= (p.Tyr609=)
c.1777T= (p.Tyr593=)
c.1600T= (p.Tyr534=)
c.1552T= (p.Tyr518=)
c.943T= (p.Tyr315=)
n.2038T=
c.1594T= (p.Tyr532=)
c.1651T= (p.Tyr551=)
c.1690T= (p.Tyr564=)
c.1357T= (p.Tyr453=)
n.1930T=
n.1821T=
1g.243426462A=CA1230390596SDCCAG8c.1889A= (p.Tyr630=)
c.992A= (p.Tyr331=)
n.96A=
c.1760A= (p.Tyr587=)
c.1466A= (p.Tyr489=)
c.986A= (p.Tyr329=)
c.968A= (p.Tyr323=)
c.1919A= (p.Tyr640=)
c.1790A= (p.Tyr597=)
c.1730A= (p.Tyr577=)
c.2015A= (p.Tyr672=)
c.1985A= (p.Tyr662=)
c.1826A= (p.Tyr609=)
c.1778A= (p.Tyr593=)
c.1601A= (p.Tyr534=)
c.1553A= (p.Tyr518=)
c.944A= (p.Tyr315=)
n.2039A=
c.1595A= (p.Tyr532=)
c.1652A= (p.Tyr551=)
c.1691A= (p.Tyr564=)
c.1358A= (p.Tyr453=)
n.1931A=
n.1822A=
1g.243426462A>CCA345667714SDCCAG8c.1889A>C (p.Tyr630Ser)
c.992A>C (p.Tyr331Ser)
n.96A>C
c.1760A>C (p.Tyr587Ser)
c.1466A>C (p.Tyr489Ser)
c.986A>C (p.Tyr329Ser)
c.968A>C (p.Tyr323Ser)
c.1919A>C (p.Tyr640Ser)
c.1790A>C (p.Tyr597Ser)
c.1730A>C (p.Tyr577Ser)
c.2015A>C (p.Tyr672Ser)
c.1985A>C (p.Tyr662Ser)
c.1826A>C (p.Tyr609Ser)
c.1778A>C (p.Tyr593Ser)
c.1601A>C (p.Tyr534Ser)
c.1553A>C (p.Tyr518Ser)
c.944A>C (p.Tyr315Ser)
n.2039A>C
c.1595A>C (p.Tyr532Ser)
c.1652A>C (p.Tyr551Ser)
c.1691A>C (p.Tyr564Ser)
c.1358A>C (p.Tyr453Ser)
n.1931A>C
n.1822A>C
1g.243426462A>GCA345667715SDCCAG8c.1889A>G (p.Tyr630Cys)
c.992A>G (p.Tyr331Cys)
n.96A>G
c.1760A>G (p.Tyr587Cys)
c.1466A>G (p.Tyr489Cys)
c.986A>G (p.Tyr329Cys)
c.968A>G (p.Tyr323Cys)
c.1919A>G (p.Tyr640Cys)
c.1790A>G (p.Tyr597Cys)
c.1730A>G (p.Tyr577Cys)
c.2015A>G (p.Tyr672Cys)
c.1985A>G (p.Tyr662Cys)
c.1826A>G (p.Tyr609Cys)
c.1778A>G (p.Tyr593Cys)
c.1601A>G (p.Tyr534Cys)
c.1553A>G (p.Tyr518Cys)
c.944A>G (p.Tyr315Cys)
n.2039A>G
c.1595A>G (p.Tyr532Cys)
c.1652A>G (p.Tyr551Cys)
c.1691A>G (p.Tyr564Cys)
c.1358A>G (p.Tyr453Cys)
n.1931A>G
n.1822A>G
1g.243426462A>TCA345667716SDCCAG8c.1889A>T (p.Tyr630Phe)
c.992A>T (p.Tyr331Phe)
n.96A>T
c.1760A>T (p.Tyr587Phe)
c.1466A>T (p.Tyr489Phe)
c.986A>T (p.Tyr329Phe)
c.968A>T (p.Tyr323Phe)
c.1919A>T (p.Tyr640Phe)
c.1790A>T (p.Tyr597Phe)
c.1730A>T (p.Tyr577Phe)
c.2015A>T (p.Tyr672Phe)
c.1985A>T (p.Tyr662Phe)
c.1826A>T (p.Tyr609Phe)
c.1778A>T (p.Tyr593Phe)
c.1601A>T (p.Tyr534Phe)
c.1553A>T (p.Tyr518Phe)
c.944A>T (p.Tyr315Phe)
n.2039A>T
c.1595A>T (p.Tyr532Phe)
c.1652A>T (p.Tyr551Phe)
c.1691A>T (p.Tyr564Phe)
c.1358A>T (p.Tyr453Phe)
n.1931A>T
n.1822A>T
1g.243426463T>ACA345667717SDCCAG8c.1890T>A (p.Tyr630Ter)
c.993T>A (p.Tyr331Ter)
n.97T>A
c.1761T>A (p.Tyr587Ter)
c.1467T>A (p.Tyr489Ter)
c.987T>A (p.Tyr329Ter)
c.969T>A (p.Tyr323Ter)
c.1920T>A (p.Tyr640Ter)
c.1791T>A (p.Tyr597Ter)
c.1731T>A (p.Tyr577Ter)
c.2016T>A (p.Tyr672Ter)
c.1986T>A (p.Tyr662Ter)
c.1827T>A (p.Tyr609Ter)
c.1779T>A (p.Tyr593Ter)
c.1602T>A (p.Tyr534Ter)
c.1554T>A (p.Tyr518Ter)
c.945T>A (p.Tyr315Ter)
n.2040T>A
c.1596T>A (p.Tyr532Ter)
c.1653T>A (p.Tyr551Ter)
c.1692T>A (p.Tyr564Ter)
c.1359T>A (p.Tyr453Ter)
n.1932T>A
n.1823T>A
 gnomAD v4
1g.243426463T>CCA1483770SDCCAG8c.1890T>C (p.Tyr630=)
c.993T>C (p.Tyr331=)
n.97T>C
c.1761T>C (p.Tyr587=)
c.1467T>C (p.Tyr489=)
c.987T>C (p.Tyr329=)
c.969T>C (p.Tyr323=)
c.1920T>C (p.Tyr640=)
c.1791T>C (p.Tyr597=)
c.1731T>C (p.Tyr577=)
c.2016T>C (p.Tyr672=)
c.1986T>C (p.Tyr662=)
c.1827T>C (p.Tyr609=)
c.1779T>C (p.Tyr593=)
c.1602T>C (p.Tyr534=)
c.1554T>C (p.Tyr518=)
c.945T>C (p.Tyr315=)
n.2040T>C
c.1596T>C (p.Tyr532=)
c.1653T>C (p.Tyr551=)
c.1692T>C (p.Tyr564=)
c.1359T>C (p.Tyr453=)
n.1932T>C
n.1823T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426463T>GCA345667718SDCCAG8c.1890T>G (p.Tyr630Ter)
c.993T>G (p.Tyr331Ter)
n.97T>G
c.1761T>G (p.Tyr587Ter)
c.1467T>G (p.Tyr489Ter)
c.987T>G (p.Tyr329Ter)
c.969T>G (p.Tyr323Ter)
c.1920T>G (p.Tyr640Ter)
c.1791T>G (p.Tyr597Ter)
c.1731T>G (p.Tyr577Ter)
c.2016T>G (p.Tyr672Ter)
c.1986T>G (p.Tyr662Ter)
c.1827T>G (p.Tyr609Ter)
c.1779T>G (p.Tyr593Ter)
c.1602T>G (p.Tyr534Ter)
c.1554T>G (p.Tyr518Ter)
c.945T>G (p.Tyr315Ter)
n.2040T>G
c.1596T>G (p.Tyr532Ter)
c.1653T>G (p.Tyr551Ter)
c.1692T>G (p.Tyr564Ter)
c.1359T>G (p.Tyr453Ter)
n.1932T>G
n.1823T>G
1g.243426463T=CA1230390597SDCCAG8c.1890T= (p.Tyr630=)
c.993T= (p.Tyr331=)
n.97T=
c.1761T= (p.Tyr587=)
c.1467T= (p.Tyr489=)
c.987T= (p.Tyr329=)
c.969T= (p.Tyr323=)
c.1920T= (p.Tyr640=)
c.1791T= (p.Tyr597=)
c.1731T= (p.Tyr577=)
c.2016T= (p.Tyr672=)
c.1986T= (p.Tyr662=)
c.1827T= (p.Tyr609=)
c.1779T= (p.Tyr593=)
c.1602T= (p.Tyr534=)
c.1554T= (p.Tyr518=)
c.945T= (p.Tyr315=)
n.2040T=
c.1596T= (p.Tyr532=)
c.1653T= (p.Tyr551=)
c.1692T= (p.Tyr564=)
c.1359T= (p.Tyr453=)
n.1932T=
n.1823T=
1g.243426463dupCA530248391SDCCAG8c.1890dup (p.Thr631TyrfsTer3)
c.993dup (p.Thr332TyrfsTer3)
n.97dup
c.1761dup (p.Thr588TyrfsTer3)
c.1467dup (p.Thr490TyrfsTer3)
c.987dup (p.Thr330TyrfsTer3)
c.969dup (p.Thr324TyrfsTer3)
c.1920dup (p.Thr641TyrfsTer3)
c.1791dup (p.Thr598TyrfsTer3)
c.1731dup (p.Thr578TyrfsTer3)
c.2016dup (p.Thr673TyrfsTer3)
c.1986dup (p.Thr663TyrfsTer3)
c.1827dup (p.Thr610TyrfsTer3)
c.1779dup (p.Thr594TyrfsTer3)
c.1602dup (p.Thr535TyrfsTer3)
c.1554dup (p.Thr519TyrfsTer3)
c.945dup (p.Thr316TyrfsTer3)
n.2040dup
c.1596dup (p.Thr533TyrfsTer3)
c.1653dup (p.Thr552TyrfsTer3)
c.1692dup (p.Thr565TyrfsTer3)
c.1359dup (p.Thr454TyrfsTer3)
n.1932dup
n.1823dup
 dbSNP gnomAD v2 gnomAD v4
1g.243426464A>CCA345667719SDCCAG8c.1891A>C (p.Thr631Pro)
c.994A>C (p.Thr332Pro)
n.98A>C
c.1762A>C (p.Thr588Pro)
c.1468A>C (p.Thr490Pro)
c.988A>C (p.Thr330Pro)
c.970A>C (p.Thr324Pro)
c.1921A>C (p.Thr641Pro)
c.1792A>C (p.Thr598Pro)
c.1732A>C (p.Thr578Pro)
c.2017A>C (p.Thr673Pro)
c.1987A>C (p.Thr663Pro)
c.1828A>C (p.Thr610Pro)
c.1780A>C (p.Thr594Pro)
c.1603A>C (p.Thr535Pro)
c.1555A>C (p.Thr519Pro)
c.946A>C (p.Thr316Pro)
n.2041A>C
c.1597A>C (p.Thr533Pro)
c.1654A>C (p.Thr552Pro)
c.1693A>C (p.Thr565Pro)
c.1360A>C (p.Thr454Pro)
n.1933A>C
n.1824A>C
1g.243426464A>GCA345667721SDCCAG8c.1891A>G (p.Thr631Ala)
c.994A>G (p.Thr332Ala)
n.98A>G
c.1762A>G (p.Thr588Ala)
c.1468A>G (p.Thr490Ala)
c.988A>G (p.Thr330Ala)
c.970A>G (p.Thr324Ala)
c.1921A>G (p.Thr641Ala)
c.1792A>G (p.Thr598Ala)
c.1732A>G (p.Thr578Ala)
c.2017A>G (p.Thr673Ala)
c.1987A>G (p.Thr663Ala)
c.1828A>G (p.Thr610Ala)
c.1780A>G (p.Thr594Ala)
c.1603A>G (p.Thr535Ala)
c.1555A>G (p.Thr519Ala)
c.946A>G (p.Thr316Ala)
n.2041A>G
c.1597A>G (p.Thr533Ala)
c.1654A>G (p.Thr552Ala)
c.1693A>G (p.Thr565Ala)
c.1360A>G (p.Thr454Ala)
n.1933A>G
n.1824A>G
1g.243426464A>TCA345667720SDCCAG8c.1891A>T (p.Thr631Ser)
c.994A>T (p.Thr332Ser)
n.98A>T
c.1762A>T (p.Thr588Ser)
c.1468A>T (p.Thr490Ser)
c.988A>T (p.Thr330Ser)
c.970A>T (p.Thr324Ser)
c.1921A>T (p.Thr641Ser)
c.1792A>T (p.Thr598Ser)
c.1732A>T (p.Thr578Ser)
c.2017A>T (p.Thr673Ser)
c.1987A>T (p.Thr663Ser)
c.1828A>T (p.Thr610Ser)
c.1780A>T (p.Thr594Ser)
c.1603A>T (p.Thr535Ser)
c.1555A>T (p.Thr519Ser)
c.946A>T (p.Thr316Ser)
n.2041A>T
c.1597A>T (p.Thr533Ser)
c.1654A>T (p.Thr552Ser)
c.1693A>T (p.Thr565Ser)
c.1360A>T (p.Thr454Ser)
n.1933A>T
n.1824A>T
1g.243426465C>ACA345667722SDCCAG8c.1892C>A (p.Thr631Lys)
c.995C>A (p.Thr332Lys)
n.99C>A
c.1763C>A (p.Thr588Lys)
c.1469C>A (p.Thr490Lys)
c.989C>A (p.Thr330Lys)
c.971C>A (p.Thr324Lys)
c.1922C>A (p.Thr641Lys)
c.1793C>A (p.Thr598Lys)
c.1733C>A (p.Thr578Lys)
c.2018C>A (p.Thr673Lys)
c.1988C>A (p.Thr663Lys)
c.1829C>A (p.Thr610Lys)
c.1781C>A (p.Thr594Lys)
c.1604C>A (p.Thr535Lys)
c.1556C>A (p.Thr519Lys)
c.947C>A (p.Thr316Lys)
n.2042C>A
c.1598C>A (p.Thr533Lys)
c.1655C>A (p.Thr552Lys)
c.1694C>A (p.Thr565Lys)
c.1361C>A (p.Thr454Lys)
n.1934C>A
n.1825C>A
1g.243426465C=CA1147161298SDCCAG8c.1892C= (p.Thr631=)
c.995C= (p.Thr332=)
n.99C=
c.1763C= (p.Thr588=)
c.1469C= (p.Thr490=)
c.989C= (p.Thr330=)
c.971C= (p.Thr324=)
c.1922C= (p.Thr641=)
c.1793C= (p.Thr598=)
c.1733C= (p.Thr578=)
c.2018C= (p.Thr673=)
c.1988C= (p.Thr663=)
c.1829C= (p.Thr610=)
c.1781C= (p.Thr594=)
c.1604C= (p.Thr535=)
c.1556C= (p.Thr519=)
c.947C= (p.Thr316=)
n.2042C=
c.1598C= (p.Thr533=)
c.1655C= (p.Thr552=)
c.1694C= (p.Thr565=)
c.1361C= (p.Thr454=)
n.1934C=
n.1825C=
1g.243426465C>GCA345667723SDCCAG8c.1892C>G (p.Thr631Arg)
c.995C>G (p.Thr332Arg)
n.99C>G
c.1763C>G (p.Thr588Arg)
c.1469C>G (p.Thr490Arg)
c.989C>G (p.Thr330Arg)
c.971C>G (p.Thr324Arg)
c.1922C>G (p.Thr641Arg)
c.1793C>G (p.Thr598Arg)
c.1733C>G (p.Thr578Arg)
c.2018C>G (p.Thr673Arg)
c.1988C>G (p.Thr663Arg)
c.1829C>G (p.Thr610Arg)
c.1781C>G (p.Thr594Arg)
c.1604C>G (p.Thr535Arg)
c.1556C>G (p.Thr519Arg)
c.947C>G (p.Thr316Arg)
n.2042C>G
c.1598C>G (p.Thr533Arg)
c.1655C>G (p.Thr552Arg)
c.1694C>G (p.Thr565Arg)
c.1361C>G (p.Thr454Arg)
n.1934C>G
n.1825C>G
1g.243426465C>TCA1483771SDCCAG8c.1892C>T (p.Thr631Ile)
c.995C>T (p.Thr332Ile)
n.99C>T
c.1763C>T (p.Thr588Ile)
c.1469C>T (p.Thr490Ile)
c.989C>T (p.Thr330Ile)
c.971C>T (p.Thr324Ile)
c.1922C>T (p.Thr641Ile)
c.1793C>T (p.Thr598Ile)
c.1733C>T (p.Thr578Ile)
c.2018C>T (p.Thr673Ile)
c.1988C>T (p.Thr663Ile)
c.1829C>T (p.Thr610Ile)
c.1781C>T (p.Thr594Ile)
c.1604C>T (p.Thr535Ile)
c.1556C>T (p.Thr519Ile)
c.947C>T (p.Thr316Ile)
n.2042C>T
c.1598C>T (p.Thr533Ile)
c.1655C>T (p.Thr552Ile)
c.1694C>T (p.Thr565Ile)
c.1361C>T (p.Thr454Ile)
n.1934C>T
n.1825C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426466A=CA1230390598SDCCAG8c.1893A= (p.Thr631=)
c.996A= (p.Thr332=)
n.100A=
c.1764A= (p.Thr588=)
c.1470A= (p.Thr490=)
c.990A= (p.Thr330=)
c.972A= (p.Thr324=)
c.1923A= (p.Thr641=)
c.1794A= (p.Thr598=)
c.1734A= (p.Thr578=)
c.2019A= (p.Thr673=)
c.1989A= (p.Thr663=)
c.1830A= (p.Thr610=)
c.1782A= (p.Thr594=)
c.1605A= (p.Thr535=)
c.1557A= (p.Thr519=)
c.948A= (p.Thr316=)
n.2043A=
c.1599A= (p.Thr533=)
c.1656A= (p.Thr552=)
c.1695A= (p.Thr565=)
c.1362A= (p.Thr454=)
n.1935A=
n.1826A=
1g.243426466A>CCA424346858SDCCAG8c.1893A>C (p.Thr631=)
c.996A>C (p.Thr332=)
n.100A>C
c.1764A>C (p.Thr588=)
c.1470A>C (p.Thr490=)
c.990A>C (p.Thr330=)
c.972A>C (p.Thr324=)
c.1923A>C (p.Thr641=)
c.1794A>C (p.Thr598=)
c.1734A>C (p.Thr578=)
c.2019A>C (p.Thr673=)
c.1989A>C (p.Thr663=)
c.1830A>C (p.Thr610=)
c.1782A>C (p.Thr594=)
c.1605A>C (p.Thr535=)
c.1557A>C (p.Thr519=)
c.948A>C (p.Thr316=)
n.2043A>C
c.1599A>C (p.Thr533=)
c.1656A>C (p.Thr552=)
c.1695A>C (p.Thr565=)
c.1362A>C (p.Thr454=)
n.1935A>C
n.1826A>C
1g.243426466A>GCA1483772SDCCAG8c.1893A>G (p.Thr631=)
c.996A>G (p.Thr332=)
n.100A>G
c.1764A>G (p.Thr588=)
c.1470A>G (p.Thr490=)
c.990A>G (p.Thr330=)
c.972A>G (p.Thr324=)
c.1923A>G (p.Thr641=)
c.1794A>G (p.Thr598=)
c.1734A>G (p.Thr578=)
c.2019A>G (p.Thr673=)
c.1989A>G (p.Thr663=)
c.1830A>G (p.Thr610=)
c.1782A>G (p.Thr594=)
c.1605A>G (p.Thr535=)
c.1557A>G (p.Thr519=)
c.948A>G (p.Thr316=)
n.2043A>G
c.1599A>G (p.Thr533=)
c.1656A>G (p.Thr552=)
c.1695A>G (p.Thr565=)
c.1362A>G (p.Thr454=)
n.1935A>G
n.1826A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426466A>TCA424346859SDCCAG8c.1893A>T (p.Thr631=)
c.996A>T (p.Thr332=)
n.100A>T
c.1764A>T (p.Thr588=)
c.1470A>T (p.Thr490=)
c.990A>T (p.Thr330=)
c.972A>T (p.Thr324=)
c.1923A>T (p.Thr641=)
c.1794A>T (p.Thr598=)
c.1734A>T (p.Thr578=)
c.2019A>T (p.Thr673=)
c.1989A>T (p.Thr663=)
c.1830A>T (p.Thr610=)
c.1782A>T (p.Thr594=)
c.1605A>T (p.Thr535=)
c.1557A>T (p.Thr519=)
c.948A>T (p.Thr316=)
n.2043A>T
c.1599A>T (p.Thr533=)
c.1656A>T (p.Thr552=)
c.1695A>T (p.Thr565=)
c.1362A>T (p.Thr454=)
n.1935A>T
n.1826A>T
1g.243426467T>ACA345667724SDCCAG8c.1894T>A (p.Tyr632Asn)
c.997T>A (p.Tyr333Asn)
n.101T>A
c.1765T>A (p.Tyr589Asn)
c.1471T>A (p.Tyr491Asn)
c.991T>A (p.Tyr331Asn)
c.973T>A (p.Tyr325Asn)
c.1924T>A (p.Tyr642Asn)
c.1795T>A (p.Tyr599Asn)
c.1735T>A (p.Tyr579Asn)
c.2020T>A (p.Tyr674Asn)
c.1990T>A (p.Tyr664Asn)
c.1831T>A (p.Tyr611Asn)
c.1783T>A (p.Tyr595Asn)
c.1606T>A (p.Tyr536Asn)
c.1558T>A (p.Tyr520Asn)
c.949T>A (p.Tyr317Asn)
n.2044T>A
c.1600T>A (p.Tyr534Asn)
c.1657T>A (p.Tyr553Asn)
c.1696T>A (p.Tyr566Asn)
c.1363T>A (p.Tyr455Asn)
n.1936T>A
n.1827T>A
1g.243426467T>CCA345667726SDCCAG8c.1894T>C (p.Tyr632His)
c.997T>C (p.Tyr333His)
n.101T>C
c.1765T>C (p.Tyr589His)
c.1471T>C (p.Tyr491His)
c.991T>C (p.Tyr331His)
c.973T>C (p.Tyr325His)
c.1924T>C (p.Tyr642His)
c.1795T>C (p.Tyr599His)
c.1735T>C (p.Tyr579His)
c.2020T>C (p.Tyr674His)
c.1990T>C (p.Tyr664His)
c.1831T>C (p.Tyr611His)
c.1783T>C (p.Tyr595His)
c.1606T>C (p.Tyr536His)
c.1558T>C (p.Tyr520His)
c.949T>C (p.Tyr317His)
n.2044T>C
c.1600T>C (p.Tyr534His)
c.1657T>C (p.Tyr553His)
c.1696T>C (p.Tyr566His)
c.1363T>C (p.Tyr455His)
n.1936T>C
n.1827T>C
1g.243426467T>GCA345667725SDCCAG8c.1894T>G (p.Tyr632Asp)
c.997T>G (p.Tyr333Asp)
n.101T>G
c.1765T>G (p.Tyr589Asp)
c.1471T>G (p.Tyr491Asp)
c.991T>G (p.Tyr331Asp)
c.973T>G (p.Tyr325Asp)
c.1924T>G (p.Tyr642Asp)
c.1795T>G (p.Tyr599Asp)
c.1735T>G (p.Tyr579Asp)
c.2020T>G (p.Tyr674Asp)
c.1990T>G (p.Tyr664Asp)
c.1831T>G (p.Tyr611Asp)
c.1783T>G (p.Tyr595Asp)
c.1606T>G (p.Tyr536Asp)
c.1558T>G (p.Tyr520Asp)
c.949T>G (p.Tyr317Asp)
n.2044T>G
c.1600T>G (p.Tyr534Asp)
c.1657T>G (p.Tyr553Asp)
c.1696T>G (p.Tyr566Asp)
c.1363T>G (p.Tyr455Asp)
n.1936T>G
n.1827T>G
1g.243426468A>CCA345667727SDCCAG8c.1895A>C (p.Tyr632Ser)
c.998A>C (p.Tyr333Ser)
n.102A>C
c.1766A>C (p.Tyr589Ser)
c.1472A>C (p.Tyr491Ser)
c.992A>C (p.Tyr331Ser)
c.974A>C (p.Tyr325Ser)
c.1925A>C (p.Tyr642Ser)
c.1796A>C (p.Tyr599Ser)
c.1736A>C (p.Tyr579Ser)
c.2021A>C (p.Tyr674Ser)
c.1991A>C (p.Tyr664Ser)
c.1832A>C (p.Tyr611Ser)
c.1784A>C (p.Tyr595Ser)
c.1607A>C (p.Tyr536Ser)
c.1559A>C (p.Tyr520Ser)
c.950A>C (p.Tyr317Ser)
n.2045A>C
c.1601A>C (p.Tyr534Ser)
c.1658A>C (p.Tyr553Ser)
c.1697A>C (p.Tyr566Ser)
c.1364A>C (p.Tyr455Ser)
n.1937A>C
n.1828A>C
1g.243426468A>GCA345667728SDCCAG8c.1895A>G (p.Tyr632Cys)
c.998A>G (p.Tyr333Cys)
n.102A>G
c.1766A>G (p.Tyr589Cys)
c.1472A>G (p.Tyr491Cys)
c.992A>G (p.Tyr331Cys)
c.974A>G (p.Tyr325Cys)
c.1925A>G (p.Tyr642Cys)
c.1796A>G (p.Tyr599Cys)
c.1736A>G (p.Tyr579Cys)
c.2021A>G (p.Tyr674Cys)
c.1991A>G (p.Tyr664Cys)
c.1832A>G (p.Tyr611Cys)
c.1784A>G (p.Tyr595Cys)
c.1607A>G (p.Tyr536Cys)
c.1559A>G (p.Tyr520Cys)
c.950A>G (p.Tyr317Cys)
n.2045A>G
c.1601A>G (p.Tyr534Cys)
c.1658A>G (p.Tyr553Cys)
c.1697A>G (p.Tyr566Cys)
c.1364A>G (p.Tyr455Cys)
n.1937A>G
n.1828A>G
1g.243426468A>TCA345667729SDCCAG8c.1895A>T (p.Tyr632Phe)
c.998A>T (p.Tyr333Phe)
n.102A>T
c.1766A>T (p.Tyr589Phe)
c.1472A>T (p.Tyr491Phe)
c.992A>T (p.Tyr331Phe)
c.974A>T (p.Tyr325Phe)
c.1925A>T (p.Tyr642Phe)
c.1796A>T (p.Tyr599Phe)
c.1736A>T (p.Tyr579Phe)
c.2021A>T (p.Tyr674Phe)
c.1991A>T (p.Tyr664Phe)
c.1832A>T (p.Tyr611Phe)
c.1784A>T (p.Tyr595Phe)
c.1607A>T (p.Tyr536Phe)
c.1559A>T (p.Tyr520Phe)
c.950A>T (p.Tyr317Phe)
n.2045A>T
c.1601A>T (p.Tyr534Phe)
c.1658A>T (p.Tyr553Phe)
c.1697A>T (p.Tyr566Phe)
c.1364A>T (p.Tyr455Phe)
n.1937A>T
n.1828A>T
1g.243426469T>ACA345667730SDCCAG8c.1896T>A (p.Tyr632Ter)
c.999T>A (p.Tyr333Ter)
n.103T>A
c.1767T>A (p.Tyr589Ter)
c.1473T>A (p.Tyr491Ter)
c.993T>A (p.Tyr331Ter)
c.975T>A (p.Tyr325Ter)
c.1926T>A (p.Tyr642Ter)
c.1797T>A (p.Tyr599Ter)
c.1737T>A (p.Tyr579Ter)
c.2022T>A (p.Tyr674Ter)
c.1992T>A (p.Tyr664Ter)
c.1833T>A (p.Tyr611Ter)
c.1785T>A (p.Tyr595Ter)
c.1608T>A (p.Tyr536Ter)
c.1560T>A (p.Tyr520Ter)
c.951T>A (p.Tyr317Ter)
n.2046T>A
c.1602T>A (p.Tyr534Ter)
c.1659T>A (p.Tyr553Ter)
c.1698T>A (p.Tyr566Ter)
c.1365T>A (p.Tyr455Ter)
n.1938T>A
n.1829T>A
1g.243426469T>CCA1483773SDCCAG8c.1896T>C (p.Tyr632=)
c.999T>C (p.Tyr333=)
n.103T>C
c.1767T>C (p.Tyr589=)
c.1473T>C (p.Tyr491=)
c.993T>C (p.Tyr331=)
c.975T>C (p.Tyr325=)
c.1926T>C (p.Tyr642=)
c.1797T>C (p.Tyr599=)
c.1737T>C (p.Tyr579=)
c.2022T>C (p.Tyr674=)
c.1992T>C (p.Tyr664=)
c.1833T>C (p.Tyr611=)
c.1785T>C (p.Tyr595=)
c.1608T>C (p.Tyr536=)
c.1560T>C (p.Tyr520=)
c.951T>C (p.Tyr317=)
n.2046T>C
c.1602T>C (p.Tyr534=)
c.1659T>C (p.Tyr553=)
c.1698T>C (p.Tyr566=)
c.1365T>C (p.Tyr455=)
n.1938T>C
n.1829T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426469T>GCA345667731SDCCAG8c.1896T>G (p.Tyr632Ter)
c.999T>G (p.Tyr333Ter)
n.103T>G
c.1767T>G (p.Tyr589Ter)
c.1473T>G (p.Tyr491Ter)
c.993T>G (p.Tyr331Ter)
c.975T>G (p.Tyr325Ter)
c.1926T>G (p.Tyr642Ter)
c.1797T>G (p.Tyr599Ter)
c.1737T>G (p.Tyr579Ter)
c.2022T>G (p.Tyr674Ter)
c.1992T>G (p.Tyr664Ter)
c.1833T>G (p.Tyr611Ter)
c.1785T>G (p.Tyr595Ter)
c.1608T>G (p.Tyr536Ter)
c.1560T>G (p.Tyr520Ter)
c.951T>G (p.Tyr317Ter)
n.2046T>G
c.1602T>G (p.Tyr534Ter)
c.1659T>G (p.Tyr553Ter)
c.1698T>G (p.Tyr566Ter)
c.1365T>G (p.Tyr455Ter)
n.1938T>G
n.1829T>G
1g.243426469T=CA1230390599SDCCAG8c.1896T= (p.Tyr632=)
c.999T= (p.Tyr333=)
n.103T=
c.1767T= (p.Tyr589=)
c.1473T= (p.Tyr491=)
c.993T= (p.Tyr331=)
c.975T= (p.Tyr325=)
c.1926T= (p.Tyr642=)
c.1797T= (p.Tyr599=)
c.1737T= (p.Tyr579=)
c.2022T= (p.Tyr674=)
c.1992T= (p.Tyr664=)
c.1833T= (p.Tyr611=)
c.1785T= (p.Tyr595=)
c.1608T= (p.Tyr536=)
c.1560T= (p.Tyr520=)
c.951T= (p.Tyr317=)
n.2046T=
c.1602T= (p.Tyr534=)
c.1659T= (p.Tyr553=)
c.1698T= (p.Tyr566=)
c.1365T= (p.Tyr455=)
n.1938T=
n.1829T=
1g.243426470G>ACA345667734SDCCAG8c.1897G>A (p.Asp633Asn)
c.1000G>A (p.Asp334Asn)
n.104G>A
c.1768G>A (p.Asp590Asn)
c.1474G>A (p.Asp492Asn)
c.994G>A (p.Asp332Asn)
c.976G>A (p.Asp326Asn)
c.1927G>A (p.Asp643Asn)
c.1798G>A (p.Asp600Asn)
c.1738G>A (p.Asp580Asn)
c.2023G>A (p.Asp675Asn)
c.1993G>A (p.Asp665Asn)
c.1834G>A (p.Asp612Asn)
c.1786G>A (p.Asp596Asn)
c.1609G>A (p.Asp537Asn)
c.1561G>A (p.Asp521Asn)
c.952G>A (p.Asp318Asn)
n.2047G>A
c.1603G>A (p.Asp535Asn)
c.1660G>A (p.Asp554Asn)
c.1699G>A (p.Asp567Asn)
c.1366G>A (p.Asp456Asn)
n.1939G>A
n.1830G>A
 gnomAD v4
1g.243426470G>CCA345667732SDCCAG8c.1897G>C (p.Asp633His)
c.1000G>C (p.Asp334His)
n.104G>C
c.1768G>C (p.Asp590His)
c.1474G>C (p.Asp492His)
c.994G>C (p.Asp332His)
c.976G>C (p.Asp326His)
c.1927G>C (p.Asp643His)
c.1798G>C (p.Asp600His)
c.1738G>C (p.Asp580His)
c.2023G>C (p.Asp675His)
c.1993G>C (p.Asp665His)
c.1834G>C (p.Asp612His)
c.1786G>C (p.Asp596His)
c.1609G>C (p.Asp537His)
c.1561G>C (p.Asp521His)
c.952G>C (p.Asp318His)
n.2047G>C
c.1603G>C (p.Asp535His)
c.1660G>C (p.Asp554His)
c.1699G>C (p.Asp567His)
c.1366G>C (p.Asp456His)
n.1939G>C
n.1830G>C
1g.243426470G>TCA345667733SDCCAG8c.1897G>T (p.Asp633Tyr)
c.1000G>T (p.Asp334Tyr)
n.104G>T
c.1768G>T (p.Asp590Tyr)
c.1474G>T (p.Asp492Tyr)
c.994G>T (p.Asp332Tyr)
c.976G>T (p.Asp326Tyr)
c.1927G>T (p.Asp643Tyr)
c.1798G>T (p.Asp600Tyr)
c.1738G>T (p.Asp580Tyr)
c.2023G>T (p.Asp675Tyr)
c.1993G>T (p.Asp665Tyr)
c.1834G>T (p.Asp612Tyr)
c.1786G>T (p.Asp596Tyr)
c.1609G>T (p.Asp537Tyr)
c.1561G>T (p.Asp521Tyr)
c.952G>T (p.Asp318Tyr)
n.2047G>T
c.1603G>T (p.Asp535Tyr)
c.1660G>T (p.Asp554Tyr)
c.1699G>T (p.Asp567Tyr)
c.1366G>T (p.Asp456Tyr)
n.1939G>T
n.1830G>T
1g.243426471A=CA1230390600SDCCAG8c.1898A= (p.Asp633=)
c.1001A= (p.Asp334=)
n.105A=
c.1769A= (p.Asp590=)
c.1475A= (p.Asp492=)
c.995A= (p.Asp332=)
c.977A= (p.Asp326=)
c.1928A= (p.Asp643=)
c.1799A= (p.Asp600=)
c.1739A= (p.Asp580=)
c.2024A= (p.Asp675=)
c.1994A= (p.Asp665=)
c.1835A= (p.Asp612=)
c.1787A= (p.Asp596=)
c.1610A= (p.Asp537=)
c.1562A= (p.Asp521=)
c.953A= (p.Asp318=)
n.2048A=
c.1604A= (p.Asp535=)
c.1661A= (p.Asp554=)
c.1700A= (p.Asp567=)
c.1367A= (p.Asp456=)
n.1940A=
n.1831A=
1g.243426471A>CCA345667735SDCCAG8c.1898A>C (p.Asp633Ala)
c.1001A>C (p.Asp334Ala)
n.105A>C
c.1769A>C (p.Asp590Ala)
c.1475A>C (p.Asp492Ala)
c.995A>C (p.Asp332Ala)
c.977A>C (p.Asp326Ala)
c.1928A>C (p.Asp643Ala)
c.1799A>C (p.Asp600Ala)
c.1739A>C (p.Asp580Ala)
c.2024A>C (p.Asp675Ala)
c.1994A>C (p.Asp665Ala)
c.1835A>C (p.Asp612Ala)
c.1787A>C (p.Asp596Ala)
c.1610A>C (p.Asp537Ala)
c.1562A>C (p.Asp521Ala)
c.953A>C (p.Asp318Ala)
n.2048A>C
c.1604A>C (p.Asp535Ala)
c.1661A>C (p.Asp554Ala)
c.1700A>C (p.Asp567Ala)
c.1367A>C (p.Asp456Ala)
n.1940A>C
n.1831A>C
1g.243426471A>GCA345667736SDCCAG8c.1898A>G (p.Asp633Gly)
c.1001A>G (p.Asp334Gly)
n.105A>G
c.1769A>G (p.Asp590Gly)
c.1475A>G (p.Asp492Gly)
c.995A>G (p.Asp332Gly)
c.977A>G (p.Asp326Gly)
c.1928A>G (p.Asp643Gly)
c.1799A>G (p.Asp600Gly)
c.1739A>G (p.Asp580Gly)
c.2024A>G (p.Asp675Gly)
c.1994A>G (p.Asp665Gly)
c.1835A>G (p.Asp612Gly)
c.1787A>G (p.Asp596Gly)
c.1610A>G (p.Asp537Gly)
c.1562A>G (p.Asp521Gly)
c.953A>G (p.Asp318Gly)
n.2048A>G
c.1604A>G (p.Asp535Gly)
c.1661A>G (p.Asp554Gly)
c.1700A>G (p.Asp567Gly)
c.1367A>G (p.Asp456Gly)
n.1940A>G
n.1831A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.243426471A>TCA345667737SDCCAG8c.1898A>T (p.Asp633Val)
c.1001A>T (p.Asp334Val)
n.105A>T
c.1769A>T (p.Asp590Val)
c.1475A>T (p.Asp492Val)
c.995A>T (p.Asp332Val)
c.977A>T (p.Asp326Val)
c.1928A>T (p.Asp643Val)
c.1799A>T (p.Asp600Val)
c.1739A>T (p.Asp580Val)
c.2024A>T (p.Asp675Val)
c.1994A>T (p.Asp665Val)
c.1835A>T (p.Asp612Val)
c.1787A>T (p.Asp596Val)
c.1610A>T (p.Asp537Val)
c.1562A>T (p.Asp521Val)
c.953A>T (p.Asp318Val)
n.2048A>T
c.1604A>T (p.Asp535Val)
c.1661A>T (p.Asp554Val)
c.1700A>T (p.Asp567Val)
c.1367A>T (p.Asp456Val)
n.1940A>T
n.1831A>T
1g.243426472T>ACA41009606SDCCAG8c.1899T>A (p.Asp633Glu)
c.1002T>A (p.Asp334Glu)
n.106T>A
c.1770T>A (p.Asp590Glu)
c.1476T>A (p.Asp492Glu)
c.996T>A (p.Asp332Glu)
c.978T>A (p.Asp326Glu)
c.1929T>A (p.Asp643Glu)
c.1800T>A (p.Asp600Glu)
c.1740T>A (p.Asp580Glu)
c.2025T>A (p.Asp675Glu)
c.1995T>A (p.Asp665Glu)
c.1836T>A (p.Asp612Glu)
c.1788T>A (p.Asp596Glu)
c.1611T>A (p.Asp537Glu)
c.1563T>A (p.Asp521Glu)
c.954T>A (p.Asp318Glu)
n.2049T>A
c.1605T>A (p.Asp535Glu)
c.1662T>A (p.Asp554Glu)
c.1701T>A (p.Asp567Glu)
c.1368T>A (p.Asp456Glu)
n.1941T>A
n.1832T>A
 dbSNP gnomAD v3 gnomAD v4
1g.243426472T>CCA424346860SDCCAG8c.1899T>C (p.Asp633=)
c.1002T>C (p.Asp334=)
n.106T>C
c.1770T>C (p.Asp590=)
c.1476T>C (p.Asp492=)
c.996T>C (p.Asp332=)
c.978T>C (p.Asp326=)
c.1929T>C (p.Asp643=)
c.1800T>C (p.Asp600=)
c.1740T>C (p.Asp580=)
c.2025T>C (p.Asp675=)
c.1995T>C (p.Asp665=)
c.1836T>C (p.Asp612=)
c.1788T>C (p.Asp596=)
c.1611T>C (p.Asp537=)
c.1563T>C (p.Asp521=)
c.954T>C (p.Asp318=)
n.2049T>C
c.1605T>C (p.Asp535=)
c.1662T>C (p.Asp554=)
c.1701T>C (p.Asp567=)
c.1368T>C (p.Asp456=)
n.1941T>C
n.1832T>C
1g.243426472T>GCA345667738SDCCAG8c.1899T>G (p.Asp633Glu)
c.1002T>G (p.Asp334Glu)
n.106T>G
c.1770T>G (p.Asp590Glu)
c.1476T>G (p.Asp492Glu)
c.996T>G (p.Asp332Glu)
c.978T>G (p.Asp326Glu)
c.1929T>G (p.Asp643Glu)
c.1800T>G (p.Asp600Glu)
c.1740T>G (p.Asp580Glu)
c.2025T>G (p.Asp675Glu)
c.1995T>G (p.Asp665Glu)
c.1836T>G (p.Asp612Glu)
c.1788T>G (p.Asp596Glu)
c.1611T>G (p.Asp537Glu)
c.1563T>G (p.Asp521Glu)
c.954T>G (p.Asp318Glu)
n.2049T>G
c.1605T>G (p.Asp535Glu)
c.1662T>G (p.Asp554Glu)
c.1701T>G (p.Asp567Glu)
c.1368T>G (p.Asp456Glu)
n.1941T>G
n.1832T>G
1g.243426472T=CA1230390601SDCCAG8c.1899T= (p.Asp633=)
c.1002T= (p.Asp334=)
n.106T=
c.1770T= (p.Asp590=)
c.1476T= (p.Asp492=)
c.996T= (p.Asp332=)
c.978T= (p.Asp326=)
c.1929T= (p.Asp643=)
c.1800T= (p.Asp600=)
c.1740T= (p.Asp580=)
c.2025T= (p.Asp675=)
c.1995T= (p.Asp665=)
c.1836T= (p.Asp612=)
c.1788T= (p.Asp596=)
c.1611T= (p.Asp537=)
c.1563T= (p.Asp521=)
c.954T= (p.Asp318=)
n.2049T=
c.1605T= (p.Asp535=)
c.1662T= (p.Asp554=)
c.1701T= (p.Asp567=)
c.1368T= (p.Asp456=)
n.1941T=
n.1832T=
1g.243426473A=CA1230390602SDCCAG8c.1900A= (p.Lys634=)
c.1003A= (p.Lys335=)
n.107A=
c.1771A= (p.Lys591=)
c.1477A= (p.Lys493=)
c.997A= (p.Lys333=)
c.979A= (p.Lys327=)
c.1930A= (p.Lys644=)
c.1801A= (p.Lys601=)
c.1741A= (p.Lys581=)
c.2026A= (p.Lys676=)
c.1996A= (p.Lys666=)
c.1837A= (p.Lys613=)
c.1789A= (p.Lys597=)
c.1612A= (p.Lys538=)
c.1564A= (p.Lys522=)
c.955A= (p.Lys319=)
n.2050A=
c.1606A= (p.Lys536=)
c.1663A= (p.Lys555=)
c.1702A= (p.Lys568=)
c.1369A= (p.Lys457=)
n.1942A=
n.1833A=
1g.243426473A>CCA345667741SDCCAG8c.1900A>C (p.Lys634Gln)
c.1003A>C (p.Lys335Gln)
n.107A>C
c.1771A>C (p.Lys591Gln)
c.1477A>C (p.Lys493Gln)
c.997A>C (p.Lys333Gln)
c.979A>C (p.Lys327Gln)
c.1930A>C (p.Lys644Gln)
c.1801A>C (p.Lys601Gln)
c.1741A>C (p.Lys581Gln)
c.2026A>C (p.Lys676Gln)
c.1996A>C (p.Lys666Gln)
c.1837A>C (p.Lys613Gln)
c.1789A>C (p.Lys597Gln)
c.1612A>C (p.Lys538Gln)
c.1564A>C (p.Lys522Gln)
c.955A>C (p.Lys319Gln)
n.2050A>C
c.1606A>C (p.Lys536Gln)
c.1663A>C (p.Lys555Gln)
c.1702A>C (p.Lys568Gln)
c.1369A>C (p.Lys457Gln)
n.1942A>C
n.1833A>C
1g.243426473A>GCA345667739SDCCAG8c.1900A>G (p.Lys634Glu)
c.1003A>G (p.Lys335Glu)
n.107A>G
c.1771A>G (p.Lys591Glu)
c.1477A>G (p.Lys493Glu)
c.997A>G (p.Lys333Glu)
c.979A>G (p.Lys327Glu)
c.1930A>G (p.Lys644Glu)
c.1801A>G (p.Lys601Glu)
c.1741A>G (p.Lys581Glu)
c.2026A>G (p.Lys676Glu)
c.1996A>G (p.Lys666Glu)
c.1837A>G (p.Lys613Glu)
c.1789A>G (p.Lys597Glu)
c.1612A>G (p.Lys538Glu)
c.1564A>G (p.Lys522Glu)
c.955A>G (p.Lys319Glu)
n.2050A>G
c.1606A>G (p.Lys536Glu)
c.1663A>G (p.Lys555Glu)
c.1702A>G (p.Lys568Glu)
c.1369A>G (p.Lys457Glu)
n.1942A>G
n.1833A>G
 dbSNP gnomAD v2
1g.243426473A>TCA345667740SDCCAG8c.1900A>T (p.Lys634Ter)
c.1003A>T (p.Lys335Ter)
n.107A>T
c.1771A>T (p.Lys591Ter)
c.1477A>T (p.Lys493Ter)
c.997A>T (p.Lys333Ter)
c.979A>T (p.Lys327Ter)
c.1930A>T (p.Lys644Ter)
c.1801A>T (p.Lys601Ter)
c.1741A>T (p.Lys581Ter)
c.2026A>T (p.Lys676Ter)
c.1996A>T (p.Lys666Ter)
c.1837A>T (p.Lys613Ter)
c.1789A>T (p.Lys597Ter)
c.1612A>T (p.Lys538Ter)
c.1564A>T (p.Lys522Ter)
c.955A>T (p.Lys319Ter)
n.2050A>T
c.1606A>T (p.Lys536Ter)
c.1663A>T (p.Lys555Ter)
c.1702A>T (p.Lys568Ter)
c.1369A>T (p.Lys457Ter)
n.1942A>T
n.1833A>T
1g.243426474A>CCA345667742SDCCAG8c.1901A>C (p.Lys634Thr)
c.1004A>C (p.Lys335Thr)
n.108A>C
c.1772A>C (p.Lys591Thr)
c.1478A>C (p.Lys493Thr)
c.998A>C (p.Lys333Thr)
c.980A>C (p.Lys327Thr)
c.1931A>C (p.Lys644Thr)
c.1802A>C (p.Lys601Thr)
c.1742A>C (p.Lys581Thr)
c.2027A>C (p.Lys676Thr)
c.1997A>C (p.Lys666Thr)
c.1838A>C (p.Lys613Thr)
c.1790A>C (p.Lys597Thr)
c.1613A>C (p.Lys538Thr)
c.1565A>C (p.Lys522Thr)
c.956A>C (p.Lys319Thr)
n.2051A>C
c.1607A>C (p.Lys536Thr)
c.1664A>C (p.Lys555Thr)
c.1703A>C (p.Lys568Thr)
c.1370A>C (p.Lys457Thr)
n.1943A>C
n.1834A>C
1g.243426474A>GCA345667743SDCCAG8c.1901A>G (p.Lys634Arg)
c.1004A>G (p.Lys335Arg)
n.108A>G
c.1772A>G (p.Lys591Arg)
c.1478A>G (p.Lys493Arg)
c.998A>G (p.Lys333Arg)
c.980A>G (p.Lys327Arg)
c.1931A>G (p.Lys644Arg)
c.1802A>G (p.Lys601Arg)
c.1742A>G (p.Lys581Arg)
c.2027A>G (p.Lys676Arg)
c.1997A>G (p.Lys666Arg)
c.1838A>G (p.Lys613Arg)
c.1790A>G (p.Lys597Arg)
c.1613A>G (p.Lys538Arg)
c.1565A>G (p.Lys522Arg)
c.956A>G (p.Lys319Arg)
n.2051A>G
c.1607A>G (p.Lys536Arg)
c.1664A>G (p.Lys555Arg)
c.1703A>G (p.Lys568Arg)
c.1370A>G (p.Lys457Arg)
n.1943A>G
n.1834A>G
1g.243426474A>TCA345667744SDCCAG8c.1901A>T (p.Lys634Ile)
c.1004A>T (p.Lys335Ile)
n.108A>T
c.1772A>T (p.Lys591Ile)
c.1478A>T (p.Lys493Ile)
c.998A>T (p.Lys333Ile)
c.980A>T (p.Lys327Ile)
c.1931A>T (p.Lys644Ile)
c.1802A>T (p.Lys601Ile)
c.1742A>T (p.Lys581Ile)
c.2027A>T (p.Lys676Ile)
c.1997A>T (p.Lys666Ile)
c.1838A>T (p.Lys613Ile)
c.1790A>T (p.Lys597Ile)
c.1613A>T (p.Lys538Ile)
c.1565A>T (p.Lys522Ile)
c.956A>T (p.Lys319Ile)
n.2051A>T
c.1607A>T (p.Lys536Ile)
c.1664A>T (p.Lys555Ile)
c.1703A>T (p.Lys568Ile)
c.1370A>T (p.Lys457Ile)
n.1943A>T
n.1834A>T
1g.243426475A>CCA345667745SDCCAG8c.1902A>C (p.Lys634Asn)
c.1005A>C (p.Lys335Asn)
n.109A>C
c.1773A>C (p.Lys591Asn)
c.1479A>C (p.Lys493Asn)
c.999A>C (p.Lys333Asn)
c.981A>C (p.Lys327Asn)
c.1932A>C (p.Lys644Asn)
c.1803A>C (p.Lys601Asn)
c.1743A>C (p.Lys581Asn)
c.2028A>C (p.Lys676Asn)
c.1998A>C (p.Lys666Asn)
c.1839A>C (p.Lys613Asn)
c.1791A>C (p.Lys597Asn)
c.1614A>C (p.Lys538Asn)
c.1566A>C (p.Lys522Asn)
c.957A>C (p.Lys319Asn)
n.2052A>C
c.1608A>C (p.Lys536Asn)
c.1665A>C (p.Lys555Asn)
c.1704A>C (p.Lys568Asn)
c.1371A>C (p.Lys457Asn)
n.1944A>C
n.1835A>C
1g.243426475A>GCA424346861SDCCAG8c.1902A>G (p.Lys634=)
c.1005A>G (p.Lys335=)
n.109A>G
c.1773A>G (p.Lys591=)
c.1479A>G (p.Lys493=)
c.999A>G (p.Lys333=)
c.981A>G (p.Lys327=)
c.1932A>G (p.Lys644=)
c.1803A>G (p.Lys601=)
c.1743A>G (p.Lys581=)
c.2028A>G (p.Lys676=)
c.1998A>G (p.Lys666=)
c.1839A>G (p.Lys613=)
c.1791A>G (p.Lys597=)
c.1614A>G (p.Lys538=)
c.1566A>G (p.Lys522=)
c.957A>G (p.Lys319=)
n.2052A>G
c.1608A>G (p.Lys536=)
c.1665A>G (p.Lys555=)
c.1704A>G (p.Lys568=)
c.1371A>G (p.Lys457=)
n.1944A>G
n.1835A>G
1g.243426475A>TCA345667746SDCCAG8c.1902A>T (p.Lys634Asn)
c.1005A>T (p.Lys335Asn)
n.109A>T
c.1773A>T (p.Lys591Asn)
c.1479A>T (p.Lys493Asn)
c.999A>T (p.Lys333Asn)
c.981A>T (p.Lys327Asn)
c.1932A>T (p.Lys644Asn)
c.1803A>T (p.Lys601Asn)
c.1743A>T (p.Lys581Asn)
c.2028A>T (p.Lys676Asn)
c.1998A>T (p.Lys666Asn)
c.1839A>T (p.Lys613Asn)
c.1791A>T (p.Lys597Asn)
c.1614A>T (p.Lys538Asn)
c.1566A>T (p.Lys522Asn)
c.957A>T (p.Lys319Asn)
n.2052A>T
c.1608A>T (p.Lys536Asn)
c.1665A>T (p.Lys555Asn)
c.1704A>T (p.Lys568Asn)
c.1371A>T (p.Lys457Asn)
n.1944A>T
n.1835A>T
1g.243426476T>ACA345667747SDCCAG8c.1903T>A (p.Leu635Met)
c.1006T>A (p.Leu336Met)
n.110T>A
c.1774T>A (p.Leu592Met)
c.1480T>A (p.Leu494Met)
c.1000T>A (p.Leu334Met)
c.982T>A (p.Leu328Met)
c.1933T>A (p.Leu645Met)
c.1804T>A (p.Leu602Met)
c.1744T>A (p.Leu582Met)
c.2029T>A (p.Leu677Met)
c.1999T>A (p.Leu667Met)
c.1840T>A (p.Leu614Met)
c.1792T>A (p.Leu598Met)
c.1615T>A (p.Leu539Met)
c.1567T>A (p.Leu523Met)
c.958T>A (p.Leu320Met)
n.2053T>A
c.1609T>A (p.Leu537Met)
c.1666T>A (p.Leu556Met)
c.1705T>A (p.Leu569Met)
c.1372T>A (p.Leu458Met)
n.1945T>A
n.1836T>A
1g.243426476T>CCA1483774SDCCAG8c.1903T>C (p.Leu635=)
c.1006T>C (p.Leu336=)
n.110T>C
c.1774T>C (p.Leu592=)
c.1480T>C (p.Leu494=)
c.1000T>C (p.Leu334=)
c.982T>C (p.Leu328=)
c.1933T>C (p.Leu645=)
c.1804T>C (p.Leu602=)
c.1744T>C (p.Leu582=)
c.2029T>C (p.Leu677=)
c.1999T>C (p.Leu667=)
c.1840T>C (p.Leu614=)
c.1792T>C (p.Leu598=)
c.1615T>C (p.Leu539=)
c.1567T>C (p.Leu523=)
c.958T>C (p.Leu320=)
n.2053T>C
c.1609T>C (p.Leu537=)
c.1666T>C (p.Leu556=)
c.1705T>C (p.Leu569=)
c.1372T>C (p.Leu458=)
n.1945T>C
n.1836T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426476T>GCA345667748SDCCAG8c.1903T>G (p.Leu635Val)
c.1006T>G (p.Leu336Val)
n.110T>G
c.1774T>G (p.Leu592Val)
c.1480T>G (p.Leu494Val)
c.1000T>G (p.Leu334Val)
c.982T>G (p.Leu328Val)
c.1933T>G (p.Leu645Val)
c.1804T>G (p.Leu602Val)
c.1744T>G (p.Leu582Val)
c.2029T>G (p.Leu677Val)
c.1999T>G (p.Leu667Val)
c.1840T>G (p.Leu614Val)
c.1792T>G (p.Leu598Val)
c.1615T>G (p.Leu539Val)
c.1567T>G (p.Leu523Val)
c.958T>G (p.Leu320Val)
n.2053T>G
c.1609T>G (p.Leu537Val)
c.1666T>G (p.Leu556Val)
c.1705T>G (p.Leu569Val)
c.1372T>G (p.Leu458Val)
n.1945T>G
n.1836T>G
 gnomAD v4
1g.243426476T=CA1230390603SDCCAG8c.1903T= (p.Leu635=)
c.1006T= (p.Leu336=)
n.110T=
c.1774T= (p.Leu592=)
c.1480T= (p.Leu494=)
c.1000T= (p.Leu334=)
c.982T= (p.Leu328=)
c.1933T= (p.Leu645=)
c.1804T= (p.Leu602=)
c.1744T= (p.Leu582=)
c.2029T= (p.Leu677=)
c.1999T= (p.Leu667=)
c.1840T= (p.Leu614=)
c.1792T= (p.Leu598=)
c.1615T= (p.Leu539=)
c.1567T= (p.Leu523=)
c.958T= (p.Leu320=)
n.2053T=
c.1609T= (p.Leu537=)
c.1666T= (p.Leu556=)
c.1705T= (p.Leu569=)
c.1372T= (p.Leu458=)
n.1945T=
n.1836T=
1g.243426477T>ACA345667749SDCCAG8c.1904T>A (p.Leu635Ter)
c.1007T>A (p.Leu336Ter)
n.111T>A
c.1775T>A (p.Leu592Ter)
c.1481T>A (p.Leu494Ter)
c.1001T>A (p.Leu334Ter)
c.983T>A (p.Leu328Ter)
c.1934T>A (p.Leu645Ter)
c.1805T>A (p.Leu602Ter)
c.1745T>A (p.Leu582Ter)
c.2030T>A (p.Leu677Ter)
c.2000T>A (p.Leu667Ter)
c.1841T>A (p.Leu614Ter)
c.1793T>A (p.Leu598Ter)
c.1616T>A (p.Leu539Ter)
c.1568T>A (p.Leu523Ter)
c.959T>A (p.Leu320Ter)
n.2054T>A
c.1610T>A (p.Leu537Ter)
c.1667T>A (p.Leu556Ter)
c.1706T>A (p.Leu569Ter)
c.1373T>A (p.Leu458Ter)
n.1946T>A
n.1837T>A
1g.243426477T>CCA345667750SDCCAG8c.1904T>C (p.Leu635Ser)
c.1007T>C (p.Leu336Ser)
n.111T>C
c.1775T>C (p.Leu592Ser)
c.1481T>C (p.Leu494Ser)
c.1001T>C (p.Leu334Ser)
c.983T>C (p.Leu328Ser)
c.1934T>C (p.Leu645Ser)
c.1805T>C (p.Leu602Ser)
c.1745T>C (p.Leu582Ser)
c.2030T>C (p.Leu677Ser)
c.2000T>C (p.Leu667Ser)
c.1841T>C (p.Leu614Ser)
c.1793T>C (p.Leu598Ser)
c.1616T>C (p.Leu539Ser)
c.1568T>C (p.Leu523Ser)
c.959T>C (p.Leu320Ser)
n.2054T>C
c.1610T>C (p.Leu537Ser)
c.1667T>C (p.Leu556Ser)
c.1706T>C (p.Leu569Ser)
c.1373T>C (p.Leu458Ser)
n.1946T>C
n.1837T>C
1g.243426477T>GCA345667751SDCCAG8c.1904T>G (p.Leu635Trp)
c.1007T>G (p.Leu336Trp)
n.111T>G
c.1775T>G (p.Leu592Trp)
c.1481T>G (p.Leu494Trp)
c.1001T>G (p.Leu334Trp)
c.983T>G (p.Leu328Trp)
c.1934T>G (p.Leu645Trp)
c.1805T>G (p.Leu602Trp)
c.1745T>G (p.Leu582Trp)
c.2030T>G (p.Leu677Trp)
c.2000T>G (p.Leu667Trp)
c.1841T>G (p.Leu614Trp)
c.1793T>G (p.Leu598Trp)
c.1616T>G (p.Leu539Trp)
c.1568T>G (p.Leu523Trp)
c.959T>G (p.Leu320Trp)
n.2054T>G
c.1610T>G (p.Leu537Trp)
c.1667T>G (p.Leu556Trp)
c.1706T>G (p.Leu569Trp)
c.1373T>G (p.Leu458Trp)
n.1946T>G
n.1837T>G
 dbSNP gnomAD v4
1g.243426477T=CA1230390604SDCCAG8c.1904T= (p.Leu635=)
c.1007T= (p.Leu336=)
n.111T=
c.1775T= (p.Leu592=)
c.1481T= (p.Leu494=)
c.1001T= (p.Leu334=)
c.983T= (p.Leu328=)
c.1934T= (p.Leu645=)
c.1805T= (p.Leu602=)
c.1745T= (p.Leu582=)
c.2030T= (p.Leu677=)
c.2000T= (p.Leu667=)
c.1841T= (p.Leu614=)
c.1793T= (p.Leu598=)
c.1616T= (p.Leu539=)
c.1568T= (p.Leu523=)
c.959T= (p.Leu320=)
n.2054T=
c.1610T= (p.Leu537=)
c.1667T= (p.Leu556=)
c.1706T= (p.Leu569=)
c.1373T= (p.Leu458=)
n.1946T=
n.1837T=
1g.243426478G>ACA424346862SDCCAG8c.1905G>A (p.Leu635=)
c.1008G>A (p.Leu336=)
n.112G>A
c.1776G>A (p.Leu592=)
c.1482G>A (p.Leu494=)
c.1002G>A (p.Leu334=)
c.984G>A (p.Leu328=)
c.1935G>A (p.Leu645=)
c.1806G>A (p.Leu602=)
c.1746G>A (p.Leu582=)
c.2031G>A (p.Leu677=)
c.2001G>A (p.Leu667=)
c.1842G>A (p.Leu614=)
c.1794G>A (p.Leu598=)
c.1617G>A (p.Leu539=)
c.1569G>A (p.Leu523=)
c.960G>A (p.Leu320=)
n.2055G>A
c.1611G>A (p.Leu537=)
c.1668G>A (p.Leu556=)
c.1707G>A (p.Leu569=)
c.1374G>A (p.Leu458=)
n.1947G>A
n.1838G>A
 gnomAD v4
1g.243426478G>CCA345667752SDCCAG8c.1905G>C (p.Leu635Phe)
c.1008G>C (p.Leu336Phe)
n.112G>C
c.1776G>C (p.Leu592Phe)
c.1482G>C (p.Leu494Phe)
c.1002G>C (p.Leu334Phe)
c.984G>C (p.Leu328Phe)
c.1935G>C (p.Leu645Phe)
c.1806G>C (p.Leu602Phe)
c.1746G>C (p.Leu582Phe)
c.2031G>C (p.Leu677Phe)
c.2001G>C (p.Leu667Phe)
c.1842G>C (p.Leu614Phe)
c.1794G>C (p.Leu598Phe)
c.1617G>C (p.Leu539Phe)
c.1569G>C (p.Leu523Phe)
c.960G>C (p.Leu320Phe)
n.2055G>C
c.1611G>C (p.Leu537Phe)
c.1668G>C (p.Leu556Phe)
c.1707G>C (p.Leu569Phe)
c.1374G>C (p.Leu458Phe)
n.1947G>C
n.1838G>C
1g.243426478G>TCA345667753SDCCAG8c.1905G>T (p.Leu635Phe)
c.1008G>T (p.Leu336Phe)
n.112G>T
c.1776G>T (p.Leu592Phe)
c.1482G>T (p.Leu494Phe)
c.1002G>T (p.Leu334Phe)
c.984G>T (p.Leu328Phe)
c.1935G>T (p.Leu645Phe)
c.1806G>T (p.Leu602Phe)
c.1746G>T (p.Leu582Phe)
c.2031G>T (p.Leu677Phe)
c.2001G>T (p.Leu667Phe)
c.1842G>T (p.Leu614Phe)
c.1794G>T (p.Leu598Phe)
c.1617G>T (p.Leu539Phe)
c.1569G>T (p.Leu523Phe)
c.960G>T (p.Leu320Phe)
n.2055G>T
c.1611G>T (p.Leu537Phe)
c.1668G>T (p.Leu556Phe)
c.1707G>T (p.Leu569Phe)
c.1374G>T (p.Leu458Phe)
n.1947G>T
n.1838G>T
1g.243426480delCA645530216SDCCAG8c.1907del (p.Gly636GlufsTer24)
c.1010del (p.Gly337GlufsTer24)
n.114del
c.1778del (p.Gly593GlufsTer24)
c.1484del (p.Gly495GlufsTer24)
c.1004del (p.Gly335GlufsTer24)
c.986del (p.Gly329GlufsTer24)
c.1937del (p.Gly646GlufsTer24)
c.1808del (p.Gly603GlufsTer24)
c.1748del (p.Gly583GlufsTer24)
c.2033del (p.Gly678GlufsTer24)
c.2003del (p.Gly668GlufsTer24)
c.1844del (p.Gly615GlufsTer24)
c.1796del (p.Gly599GlufsTer24)
c.1619del (p.Gly540GlufsTer24)
c.1571del (p.Gly524GlufsTer24)
c.962del (p.Gly321GlufsTer24)
n.2057del
c.1613del (p.Gly538GlufsTer24)
c.1670del (p.Gly557GlufsTer24)
c.1709del (p.Gly570GlufsTer24)
c.1376del (p.Gly459GlufsTer24)
n.1949del
n.1840del
 COSMIC
1g.243426479G>ACA345667754SDCCAG8c.1906G>A (p.Gly636Arg)
c.1009G>A (p.Gly337Arg)
n.113G>A
c.1777G>A (p.Gly593Arg)
c.1483G>A (p.Gly495Arg)
c.1003G>A (p.Gly335Arg)
c.985G>A (p.Gly329Arg)
c.1936G>A (p.Gly646Arg)
c.1807G>A (p.Gly603Arg)
c.1747G>A (p.Gly583Arg)
c.2032G>A (p.Gly678Arg)
c.2002G>A (p.Gly668Arg)
c.1843G>A (p.Gly615Arg)
c.1795G>A (p.Gly599Arg)
c.1618G>A (p.Gly540Arg)
c.1570G>A (p.Gly524Arg)
c.961G>A (p.Gly321Arg)
n.2056G>A
c.1612G>A (p.Gly538Arg)
c.1669G>A (p.Gly557Arg)
c.1708G>A (p.Gly570Arg)
c.1375G>A (p.Gly459Arg)
n.1948G>A
n.1839G>A
1g.243426479G>CCA345667756SDCCAG8c.1906G>C (p.Gly636Arg)
c.1009G>C (p.Gly337Arg)
n.113G>C
c.1777G>C (p.Gly593Arg)
c.1483G>C (p.Gly495Arg)
c.1003G>C (p.Gly335Arg)
c.985G>C (p.Gly329Arg)
c.1936G>C (p.Gly646Arg)
c.1807G>C (p.Gly603Arg)
c.1747G>C (p.Gly583Arg)
c.2032G>C (p.Gly678Arg)
c.2002G>C (p.Gly668Arg)
c.1843G>C (p.Gly615Arg)
c.1795G>C (p.Gly599Arg)
c.1618G>C (p.Gly540Arg)
c.1570G>C (p.Gly524Arg)
c.961G>C (p.Gly321Arg)
n.2056G>C
c.1612G>C (p.Gly538Arg)
c.1669G>C (p.Gly557Arg)
c.1708G>C (p.Gly570Arg)
c.1375G>C (p.Gly459Arg)
n.1948G>C
n.1839G>C
 dbSNP gnomAD v4
1g.243426479G=CA1230390605SDCCAG8c.1906G= (p.Gly636=)
c.1009G= (p.Gly337=)
n.113G=
c.1777G= (p.Gly593=)
c.1483G= (p.Gly495=)
c.1003G= (p.Gly335=)
c.985G= (p.Gly329=)
c.1936G= (p.Gly646=)
c.1807G= (p.Gly603=)
c.1747G= (p.Gly583=)
c.2032G= (p.Gly678=)
c.2002G= (p.Gly668=)
c.1843G= (p.Gly615=)
c.1795G= (p.Gly599=)
c.1618G= (p.Gly540=)
c.1570G= (p.Gly524=)
c.961G= (p.Gly321=)
n.2056G=
c.1612G= (p.Gly538=)
c.1669G= (p.Gly557=)
c.1708G= (p.Gly570=)
c.1375G= (p.Gly459=)
n.1948G=
n.1839G=
1g.243426479G>TCA345667755SDCCAG8c.1906G>T (p.Gly636Ter)
c.1009G>T (p.Gly337Ter)
n.113G>T
c.1777G>T (p.Gly593Ter)
c.1483G>T (p.Gly495Ter)
c.1003G>T (p.Gly335Ter)
c.985G>T (p.Gly329Ter)
c.1936G>T (p.Gly646Ter)
c.1807G>T (p.Gly603Ter)
c.1747G>T (p.Gly583Ter)
c.2032G>T (p.Gly678Ter)
c.2002G>T (p.Gly668Ter)
c.1843G>T (p.Gly615Ter)
c.1795G>T (p.Gly599Ter)
c.1618G>T (p.Gly540Ter)
c.1570G>T (p.Gly524Ter)
c.961G>T (p.Gly321Ter)
n.2056G>T
c.1612G>T (p.Gly538Ter)
c.1669G>T (p.Gly557Ter)
c.1708G>T (p.Gly570Ter)
c.1375G>T (p.Gly459Ter)
n.1948G>T
n.1839G>T
1g.243426480G>ACA345667757SDCCAG8c.1907G>A (p.Gly636Glu)
c.1010G>A (p.Gly337Glu)
n.114G>A
c.1778G>A (p.Gly593Glu)
c.1484G>A (p.Gly495Glu)
c.1004G>A (p.Gly335Glu)
c.986G>A (p.Gly329Glu)
c.1937G>A (p.Gly646Glu)
c.1808G>A (p.Gly603Glu)
c.1748G>A (p.Gly583Glu)
c.2033G>A (p.Gly678Glu)
c.2003G>A (p.Gly668Glu)
c.1844G>A (p.Gly615Glu)
c.1796G>A (p.Gly599Glu)
c.1619G>A (p.Gly540Glu)
c.1571G>A (p.Gly524Glu)
c.962G>A (p.Gly321Glu)
n.2057G>A
c.1613G>A (p.Gly538Glu)
c.1670G>A (p.Gly557Glu)
c.1709G>A (p.Gly570Glu)
c.1376G>A (p.Gly459Glu)
n.1949G>A
n.1840G>A
1g.243426480G>CCA345667758SDCCAG8c.1907G>C (p.Gly636Ala)
c.1010G>C (p.Gly337Ala)
n.114G>C
c.1778G>C (p.Gly593Ala)
c.1484G>C (p.Gly495Ala)
c.1004G>C (p.Gly335Ala)
c.986G>C (p.Gly329Ala)
c.1937G>C (p.Gly646Ala)
c.1808G>C (p.Gly603Ala)
c.1748G>C (p.Gly583Ala)
c.2033G>C (p.Gly678Ala)
c.2003G>C (p.Gly668Ala)
c.1844G>C (p.Gly615Ala)
c.1796G>C (p.Gly599Ala)
c.1619G>C (p.Gly540Ala)
c.1571G>C (p.Gly524Ala)
c.962G>C (p.Gly321Ala)
n.2057G>C
c.1613G>C (p.Gly538Ala)
c.1670G>C (p.Gly557Ala)
c.1709G>C (p.Gly570Ala)
c.1376G>C (p.Gly459Ala)
n.1949G>C
n.1840G>C
1g.243426480G>TCA345667759SDCCAG8c.1907G>T (p.Gly636Val)
c.1010G>T (p.Gly337Val)
n.114G>T
c.1778G>T (p.Gly593Val)
c.1484G>T (p.Gly495Val)
c.1004G>T (p.Gly335Val)
c.986G>T (p.Gly329Val)
c.1937G>T (p.Gly646Val)
c.1808G>T (p.Gly603Val)
c.1748G>T (p.Gly583Val)
c.2033G>T (p.Gly678Val)
c.2003G>T (p.Gly668Val)
c.1844G>T (p.Gly615Val)
c.1796G>T (p.Gly599Val)
c.1619G>T (p.Gly540Val)
c.1571G>T (p.Gly524Val)
c.962G>T (p.Gly321Val)
n.2057G>T
c.1613G>T (p.Gly538Val)
c.1670G>T (p.Gly557Val)
c.1709G>T (p.Gly570Val)
c.1376G>T (p.Gly459Val)
n.1949G>T
n.1840G>T
1g.243426481A>CCA424346863SDCCAG8c.1908A>C (p.Gly636=)
c.1011A>C (p.Gly337=)
n.115A>C
c.1779A>C (p.Gly593=)
c.1485A>C (p.Gly495=)
c.1005A>C (p.Gly335=)
c.987A>C (p.Gly329=)
c.1938A>C (p.Gly646=)
c.1809A>C (p.Gly603=)
c.1749A>C (p.Gly583=)
c.2034A>C (p.Gly678=)
c.2004A>C (p.Gly668=)
c.1845A>C (p.Gly615=)
c.1797A>C (p.Gly599=)
c.1620A>C (p.Gly540=)
c.1572A>C (p.Gly524=)
c.963A>C (p.Gly321=)
n.2058A>C
c.1614A>C (p.Gly538=)
c.1671A>C (p.Gly557=)
c.1710A>C (p.Gly570=)
c.1377A>C (p.Gly459=)
n.1950A>C
n.1841A>C
1g.243426481A>GCA424346864SDCCAG8c.1908A>G (p.Gly636=)
c.1011A>G (p.Gly337=)
n.115A>G
c.1779A>G (p.Gly593=)
c.1485A>G (p.Gly495=)
c.1005A>G (p.Gly335=)
c.987A>G (p.Gly329=)
c.1938A>G (p.Gly646=)
c.1809A>G (p.Gly603=)
c.1749A>G (p.Gly583=)
c.2034A>G (p.Gly678=)
c.2004A>G (p.Gly668=)
c.1845A>G (p.Gly615=)
c.1797A>G (p.Gly599=)
c.1620A>G (p.Gly540=)
c.1572A>G (p.Gly524=)
c.963A>G (p.Gly321=)
n.2058A>G
c.1614A>G (p.Gly538=)
c.1671A>G (p.Gly557=)
c.1710A>G (p.Gly570=)
c.1377A>G (p.Gly459=)
n.1950A>G
n.1841A>G
1g.243426481A>TCA424346865SDCCAG8c.1908A>T (p.Gly636=)
c.1011A>T (p.Gly337=)
n.115A>T
c.1779A>T (p.Gly593=)
c.1485A>T (p.Gly495=)
c.1005A>T (p.Gly335=)
c.987A>T (p.Gly329=)
c.1938A>T (p.Gly646=)
c.1809A>T (p.Gly603=)
c.1749A>T (p.Gly583=)
c.2034A>T (p.Gly678=)
c.2004A>T (p.Gly668=)
c.1845A>T (p.Gly615=)
c.1797A>T (p.Gly599=)
c.1620A>T (p.Gly540=)
c.1572A>T (p.Gly524=)
c.963A>T (p.Gly321=)
n.2058A>T
c.1614A>T (p.Gly538=)
c.1671A>T (p.Gly557=)
c.1710A>T (p.Gly570=)
c.1377A>T (p.Gly459=)
n.1950A>T
n.1841A>T
1g.243426482A>CCA345667760SDCCAG8c.1909A>C (p.Lys637Gln)
c.1012A>C (p.Lys338Gln)
n.116A>C
c.1780A>C (p.Lys594Gln)
c.1486A>C (p.Lys496Gln)
c.1006A>C (p.Lys336Gln)
c.988A>C (p.Lys330Gln)
c.1939A>C (p.Lys647Gln)
c.1810A>C (p.Lys604Gln)
c.1750A>C (p.Lys584Gln)
c.2035A>C (p.Lys679Gln)
c.2005A>C (p.Lys669Gln)
c.1846A>C (p.Lys616Gln)
c.1798A>C (p.Lys600Gln)
c.1621A>C (p.Lys541Gln)
c.1573A>C (p.Lys525Gln)
c.964A>C (p.Lys322Gln)
n.2059A>C
c.1615A>C (p.Lys539Gln)
c.1672A>C (p.Lys558Gln)
c.1711A>C (p.Lys571Gln)
c.1378A>C (p.Lys460Gln)
n.1951A>C
n.1842A>C
1g.243426482A>GCA345667761SDCCAG8c.1909A>G (p.Lys637Glu)
c.1012A>G (p.Lys338Glu)
n.116A>G
c.1780A>G (p.Lys594Glu)
c.1486A>G (p.Lys496Glu)
c.1006A>G (p.Lys336Glu)
c.988A>G (p.Lys330Glu)
c.1939A>G (p.Lys647Glu)
c.1810A>G (p.Lys604Glu)
c.1750A>G (p.Lys584Glu)
c.2035A>G (p.Lys679Glu)
c.2005A>G (p.Lys669Glu)
c.1846A>G (p.Lys616Glu)
c.1798A>G (p.Lys600Glu)
c.1621A>G (p.Lys541Glu)
c.1573A>G (p.Lys525Glu)
c.964A>G (p.Lys322Glu)
n.2059A>G
c.1615A>G (p.Lys539Glu)
c.1672A>G (p.Lys558Glu)
c.1711A>G (p.Lys571Glu)
c.1378A>G (p.Lys460Glu)
n.1951A>G
n.1842A>G
 gnomAD v4
1g.243426482A>TCA345667762SDCCAG8c.1909A>T (p.Lys637Ter)
c.1012A>T (p.Lys338Ter)
n.116A>T
c.1780A>T (p.Lys594Ter)
c.1486A>T (p.Lys496Ter)
c.1006A>T (p.Lys336Ter)
c.988A>T (p.Lys330Ter)
c.1939A>T (p.Lys647Ter)
c.1810A>T (p.Lys604Ter)
c.1750A>T (p.Lys584Ter)
c.2035A>T (p.Lys679Ter)
c.2005A>T (p.Lys669Ter)
c.1846A>T (p.Lys616Ter)
c.1798A>T (p.Lys600Ter)
c.1621A>T (p.Lys541Ter)
c.1573A>T (p.Lys525Ter)
c.964A>T (p.Lys322Ter)
n.2059A>T
c.1615A>T (p.Lys539Ter)
c.1672A>T (p.Lys558Ter)
c.1711A>T (p.Lys571Ter)
c.1378A>T (p.Lys460Ter)
n.1951A>T
n.1842A>T
1g.243426483A>CCA345667763SDCCAG8c.1910A>C (p.Lys637Thr)
c.1013A>C (p.Lys338Thr)
n.117A>C
c.1781A>C (p.Lys594Thr)
c.1487A>C (p.Lys496Thr)
c.1007A>C (p.Lys336Thr)
c.989A>C (p.Lys330Thr)
c.1940A>C (p.Lys647Thr)
c.1811A>C (p.Lys604Thr)
c.1751A>C (p.Lys584Thr)
c.2036A>C (p.Lys679Thr)
c.2006A>C (p.Lys669Thr)
c.1847A>C (p.Lys616Thr)
c.1799A>C (p.Lys600Thr)
c.1622A>C (p.Lys541Thr)
c.1574A>C (p.Lys525Thr)
c.965A>C (p.Lys322Thr)
n.2060A>C
c.1616A>C (p.Lys539Thr)
c.1673A>C (p.Lys558Thr)
c.1712A>C (p.Lys571Thr)
c.1379A>C (p.Lys460Thr)
n.1952A>C
n.1843A>C
1g.243426483A>GCA345667764SDCCAG8c.1910A>G (p.Lys637Arg)
c.1013A>G (p.Lys338Arg)
n.117A>G
c.1781A>G (p.Lys594Arg)
c.1487A>G (p.Lys496Arg)
c.1007A>G (p.Lys336Arg)
c.989A>G (p.Lys330Arg)
c.1940A>G (p.Lys647Arg)
c.1811A>G (p.Lys604Arg)
c.1751A>G (p.Lys584Arg)
c.2036A>G (p.Lys679Arg)
c.2006A>G (p.Lys669Arg)
c.1847A>G (p.Lys616Arg)
c.1799A>G (p.Lys600Arg)
c.1622A>G (p.Lys541Arg)
c.1574A>G (p.Lys525Arg)
c.965A>G (p.Lys322Arg)
n.2060A>G
c.1616A>G (p.Lys539Arg)
c.1673A>G (p.Lys558Arg)
c.1712A>G (p.Lys571Arg)
c.1379A>G (p.Lys460Arg)
n.1952A>G
n.1843A>G
1g.243426483A>TCA345667765SDCCAG8c.1910A>T (p.Lys637Met)
c.1013A>T (p.Lys338Met)
n.117A>T
c.1781A>T (p.Lys594Met)
c.1487A>T (p.Lys496Met)
c.1007A>T (p.Lys336Met)
c.989A>T (p.Lys330Met)
c.1940A>T (p.Lys647Met)
c.1811A>T (p.Lys604Met)
c.1751A>T (p.Lys584Met)
c.2036A>T (p.Lys679Met)
c.2006A>T (p.Lys669Met)
c.1847A>T (p.Lys616Met)
c.1799A>T (p.Lys600Met)
c.1622A>T (p.Lys541Met)
c.1574A>T (p.Lys525Met)
c.965A>T (p.Lys322Met)
n.2060A>T
c.1616A>T (p.Lys539Met)
c.1673A>T (p.Lys558Met)
c.1712A>T (p.Lys571Met)
c.1379A>T (p.Lys460Met)
n.1952A>T
n.1843A>T
1g.243426484G>ACA424346866SDCCAG8c.1911G>A (p.Lys637=)
c.1014G>A (p.Lys338=)
n.118G>A
c.1782G>A (p.Lys594=)
c.1488G>A (p.Lys496=)
c.1008G>A (p.Lys336=)
c.990G>A (p.Lys330=)
c.1941G>A (p.Lys647=)
c.1812G>A (p.Lys604=)
c.1752G>A (p.Lys584=)
c.2037G>A (p.Lys679=)
c.2007G>A (p.Lys669=)
c.1848G>A (p.Lys616=)
c.1800G>A (p.Lys600=)
c.1623G>A (p.Lys541=)
c.1575G>A (p.Lys525=)
c.966G>A (p.Lys322=)
n.2061G>A
c.1617G>A (p.Lys539=)
c.1674G>A (p.Lys558=)
c.1713G>A (p.Lys571=)
c.1380G>A (p.Lys460=)
n.1953G>A
n.1844G>A
1g.243426484G>CCA345667766SDCCAG8c.1911G>C (p.Lys637Asn)
c.1014G>C (p.Lys338Asn)
n.118G>C
c.1782G>C (p.Lys594Asn)
c.1488G>C (p.Lys496Asn)
c.1008G>C (p.Lys336Asn)
c.990G>C (p.Lys330Asn)
c.1941G>C (p.Lys647Asn)
c.1812G>C (p.Lys604Asn)
c.1752G>C (p.Lys584Asn)
c.2037G>C (p.Lys679Asn)
c.2007G>C (p.Lys669Asn)
c.1848G>C (p.Lys616Asn)
c.1800G>C (p.Lys600Asn)
c.1623G>C (p.Lys541Asn)
c.1575G>C (p.Lys525Asn)
c.966G>C (p.Lys322Asn)
n.2061G>C
c.1617G>C (p.Lys539Asn)
c.1674G>C (p.Lys558Asn)
c.1713G>C (p.Lys571Asn)
c.1380G>C (p.Lys460Asn)
n.1953G>C
n.1844G>C
1g.243426484G>TCA345667767SDCCAG8c.1911G>T (p.Lys637Asn)
c.1014G>T (p.Lys338Asn)
n.118G>T
c.1782G>T (p.Lys594Asn)
c.1488G>T (p.Lys496Asn)
c.1008G>T (p.Lys336Asn)
c.990G>T (p.Lys330Asn)
c.1941G>T (p.Lys647Asn)
c.1812G>T (p.Lys604Asn)
c.1752G>T (p.Lys584Asn)
c.2037G>T (p.Lys679Asn)
c.2007G>T (p.Lys669Asn)
c.1848G>T (p.Lys616Asn)
c.1800G>T (p.Lys600Asn)
c.1623G>T (p.Lys541Asn)
c.1575G>T (p.Lys525Asn)
c.966G>T (p.Lys322Asn)
n.2061G>T
c.1617G>T (p.Lys539Asn)
c.1674G>T (p.Lys558Asn)
c.1713G>T (p.Lys571Asn)
c.1380G>T (p.Lys460Asn)
n.1953G>T
n.1844G>T
 gnomAD v4
1g.243426485T>ACA345667768SDCCAG8c.1912T>A (p.Leu638Ile)
c.1015T>A (p.Leu339Ile)
n.119T>A
c.1783T>A (p.Leu595Ile)
c.1489T>A (p.Leu497Ile)
c.1009T>A (p.Leu337Ile)
c.991T>A (p.Leu331Ile)
c.1942T>A (p.Leu648Ile)
c.1813T>A (p.Leu605Ile)
c.1753T>A (p.Leu585Ile)
c.2038T>A (p.Leu680Ile)
c.2008T>A (p.Leu670Ile)
c.1849T>A (p.Leu617Ile)
c.1801T>A (p.Leu601Ile)
c.1624T>A (p.Leu542Ile)
c.1576T>A (p.Leu526Ile)
c.967T>A (p.Leu323Ile)
n.2062T>A
c.1618T>A (p.Leu540Ile)
c.1675T>A (p.Leu559Ile)
c.1714T>A (p.Leu572Ile)
c.1381T>A (p.Leu461Ile)
n.1954T>A
n.1845T>A
1g.243426485T>CCA424346867SDCCAG8c.1912T>C (p.Leu638=)
c.1015T>C (p.Leu339=)
n.119T>C
c.1783T>C (p.Leu595=)
c.1489T>C (p.Leu497=)
c.1009T>C (p.Leu337=)
c.991T>C (p.Leu331=)
c.1942T>C (p.Leu648=)
c.1813T>C (p.Leu605=)
c.1753T>C (p.Leu585=)
c.2038T>C (p.Leu680=)
c.2008T>C (p.Leu670=)
c.1849T>C (p.Leu617=)
c.1801T>C (p.Leu601=)
c.1624T>C (p.Leu542=)
c.1576T>C (p.Leu526=)
c.967T>C (p.Leu323=)
n.2062T>C
c.1618T>C (p.Leu540=)
c.1675T>C (p.Leu559=)
c.1714T>C (p.Leu572=)
c.1381T>C (p.Leu461=)
n.1954T>C
n.1845T>C
1g.243426485T>GCA345667769SDCCAG8c.1912T>G (p.Leu638Val)
c.1015T>G (p.Leu339Val)
n.119T>G
c.1783T>G (p.Leu595Val)
c.1489T>G (p.Leu497Val)
c.1009T>G (p.Leu337Val)
c.991T>G (p.Leu331Val)
c.1942T>G (p.Leu648Val)
c.1813T>G (p.Leu605Val)
c.1753T>G (p.Leu585Val)
c.2038T>G (p.Leu680Val)
c.2008T>G (p.Leu670Val)
c.1849T>G (p.Leu617Val)
c.1801T>G (p.Leu601Val)
c.1624T>G (p.Leu542Val)
c.1576T>G (p.Leu526Val)
c.967T>G (p.Leu323Val)
n.2062T>G
c.1618T>G (p.Leu540Val)
c.1675T>G (p.Leu559Val)
c.1714T>G (p.Leu572Val)
c.1381T>G (p.Leu461Val)
n.1954T>G
n.1845T>G
1g.243426486T>ACA345667770SDCCAG8c.1913T>A (p.Leu638Ter)
c.1016T>A (p.Leu339Ter)
n.120T>A
c.1784T>A (p.Leu595Ter)
c.1490T>A (p.Leu497Ter)
c.1010T>A (p.Leu337Ter)
c.992T>A (p.Leu331Ter)
c.1943T>A (p.Leu648Ter)
c.1814T>A (p.Leu605Ter)
c.1754T>A (p.Leu585Ter)
c.2039T>A (p.Leu680Ter)
c.2009T>A (p.Leu670Ter)
c.1850T>A (p.Leu617Ter)
c.1802T>A (p.Leu601Ter)
c.1625T>A (p.Leu542Ter)
c.1577T>A (p.Leu526Ter)
c.968T>A (p.Leu323Ter)
n.2063T>A
c.1619T>A (p.Leu540Ter)
c.1676T>A (p.Leu559Ter)
c.1715T>A (p.Leu572Ter)
c.1382T>A (p.Leu461Ter)
n.1955T>A
n.1846T>A
1g.243426486T>CCA1483775SDCCAG8c.1913T>C (p.Leu638Ser)
c.1016T>C (p.Leu339Ser)
n.120T>C
c.1784T>C (p.Leu595Ser)
c.1490T>C (p.Leu497Ser)
c.1010T>C (p.Leu337Ser)
c.992T>C (p.Leu331Ser)
c.1943T>C (p.Leu648Ser)
c.1814T>C (p.Leu605Ser)
c.1754T>C (p.Leu585Ser)
c.2039T>C (p.Leu680Ser)
c.2009T>C (p.Leu670Ser)
c.1850T>C (p.Leu617Ser)
c.1802T>C (p.Leu601Ser)
c.1625T>C (p.Leu542Ser)
c.1577T>C (p.Leu526Ser)
c.968T>C (p.Leu323Ser)
n.2063T>C
c.1619T>C (p.Leu540Ser)
c.1676T>C (p.Leu559Ser)
c.1715T>C (p.Leu572Ser)
c.1382T>C (p.Leu461Ser)
n.1955T>C
n.1846T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426486T>GCA345667771SDCCAG8c.1913T>G (p.Leu638Ter)
c.1016T>G (p.Leu339Ter)
n.120T>G
c.1784T>G (p.Leu595Ter)
c.1490T>G (p.Leu497Ter)
c.1010T>G (p.Leu337Ter)
c.992T>G (p.Leu331Ter)
c.1943T>G (p.Leu648Ter)
c.1814T>G (p.Leu605Ter)
c.1754T>G (p.Leu585Ter)
c.2039T>G (p.Leu680Ter)
c.2009T>G (p.Leu670Ter)
c.1850T>G (p.Leu617Ter)
c.1802T>G (p.Leu601Ter)
c.1625T>G (p.Leu542Ter)
c.1577T>G (p.Leu526Ter)
c.968T>G (p.Leu323Ter)
n.2063T>G
c.1619T>G (p.Leu540Ter)
c.1676T>G (p.Leu559Ter)
c.1715T>G (p.Leu572Ter)
c.1382T>G (p.Leu461Ter)
n.1955T>G
n.1846T>G
1g.243426486T=CA1230390606SDCCAG8c.1913T= (p.Leu638=)
c.1016T= (p.Leu339=)
n.120T=
c.1784T= (p.Leu595=)
c.1490T= (p.Leu497=)
c.1010T= (p.Leu337=)
c.992T= (p.Leu331=)
c.1943T= (p.Leu648=)
c.1814T= (p.Leu605=)
c.1754T= (p.Leu585=)
c.2039T= (p.Leu680=)
c.2009T= (p.Leu670=)
c.1850T= (p.Leu617=)
c.1802T= (p.Leu601=)
c.1625T= (p.Leu542=)
c.1577T= (p.Leu526=)
c.968T= (p.Leu323=)
n.2063T=
c.1619T= (p.Leu540=)
c.1676T= (p.Leu559=)
c.1715T= (p.Leu572=)
c.1382T= (p.Leu461=)
n.1955T=
n.1846T=
1g.243426487A=CA1230390607SDCCAG8c.1914A= (p.Leu638=)
c.1017A= (p.Leu339=)
n.121A=
c.1785A= (p.Leu595=)
c.1491A= (p.Leu497=)
c.1011A= (p.Leu337=)
c.993A= (p.Leu331=)
c.1944A= (p.Leu648=)
c.1815A= (p.Leu605=)
c.1755A= (p.Leu585=)
c.2040A= (p.Leu680=)
c.2010A= (p.Leu670=)
c.1851A= (p.Leu617=)
c.1803A= (p.Leu601=)
c.1626A= (p.Leu542=)
c.1578A= (p.Leu526=)
c.969A= (p.Leu323=)
n.2064A=
c.1620A= (p.Leu540=)
c.1677A= (p.Leu559=)
c.1716A= (p.Leu572=)
c.1383A= (p.Leu461=)
n.1956A=
n.1847A=
1g.243426487A>CCA345667772SDCCAG8c.1914A>C (p.Leu638Phe)
c.1017A>C (p.Leu339Phe)
n.121A>C
c.1785A>C (p.Leu595Phe)
c.1491A>C (p.Leu497Phe)
c.1011A>C (p.Leu337Phe)
c.993A>C (p.Leu331Phe)
c.1944A>C (p.Leu648Phe)
c.1815A>C (p.Leu605Phe)
c.1755A>C (p.Leu585Phe)
c.2040A>C (p.Leu680Phe)
c.2010A>C (p.Leu670Phe)
c.1851A>C (p.Leu617Phe)
c.1803A>C (p.Leu601Phe)
c.1626A>C (p.Leu542Phe)
c.1578A>C (p.Leu526Phe)
c.969A>C (p.Leu323Phe)
n.2064A>C
c.1620A>C (p.Leu540Phe)
c.1677A>C (p.Leu559Phe)
c.1716A>C (p.Leu572Phe)
c.1383A>C (p.Leu461Phe)
n.1956A>C
n.1847A>C
1g.243426487A>GCA1483776SDCCAG8c.1914A>G (p.Leu638=)
c.1017A>G (p.Leu339=)
n.121A>G
c.1785A>G (p.Leu595=)
c.1491A>G (p.Leu497=)
c.1011A>G (p.Leu337=)
c.993A>G (p.Leu331=)
c.1944A>G (p.Leu648=)
c.1815A>G (p.Leu605=)
c.1755A>G (p.Leu585=)
c.2040A>G (p.Leu680=)
c.2010A>G (p.Leu670=)
c.1851A>G (p.Leu617=)
c.1803A>G (p.Leu601=)
c.1626A>G (p.Leu542=)
c.1578A>G (p.Leu526=)
c.969A>G (p.Leu323=)
n.2064A>G
c.1620A>G (p.Leu540=)
c.1677A>G (p.Leu559=)
c.1716A>G (p.Leu572=)
c.1383A>G (p.Leu461=)
n.1956A>G
n.1847A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426487A>TCA345667773SDCCAG8c.1914A>T (p.Leu638Phe)
c.1017A>T (p.Leu339Phe)
n.121A>T
c.1785A>T (p.Leu595Phe)
c.1491A>T (p.Leu497Phe)
c.1011A>T (p.Leu337Phe)
c.993A>T (p.Leu331Phe)
c.1944A>T (p.Leu648Phe)
c.1815A>T (p.Leu605Phe)
c.1755A>T (p.Leu585Phe)
c.2040A>T (p.Leu680Phe)
c.2010A>T (p.Leu670Phe)
c.1851A>T (p.Leu617Phe)
c.1803A>T (p.Leu601Phe)
c.1626A>T (p.Leu542Phe)
c.1578A>T (p.Leu526Phe)
c.969A>T (p.Leu323Phe)
n.2064A>T
c.1620A>T (p.Leu540Phe)
c.1677A>T (p.Leu559Phe)
c.1716A>T (p.Leu572Phe)
c.1383A>T (p.Leu461Phe)
n.1956A>T
n.1847A>T
1g.243426488C>ACA345667774SDCCAG8c.1915C>A (p.Gln639Lys)
c.1018C>A (p.Gln340Lys)
n.122C>A
c.1786C>A (p.Gln596Lys)
c.1492C>A (p.Gln498Lys)
c.1012C>A (p.Gln338Lys)
c.994C>A (p.Gln332Lys)
c.1945C>A (p.Gln649Lys)
c.1816C>A (p.Gln606Lys)
c.1756C>A (p.Gln586Lys)
c.2041C>A (p.Gln681Lys)
c.2011C>A (p.Gln671Lys)
c.1852C>A (p.Gln618Lys)
c.1804C>A (p.Gln602Lys)
c.1627C>A (p.Gln543Lys)
c.1579C>A (p.Gln527Lys)
c.970C>A (p.Gln324Lys)
n.2065C>A
c.1621C>A (p.Gln541Lys)
c.1678C>A (p.Gln560Lys)
c.1717C>A (p.Gln573Lys)
c.1384C>A (p.Gln462Lys)
n.1957C>A
n.1848C>A
 gnomAD v4
1g.243426488C>GCA345667775SDCCAG8c.1915C>G (p.Gln639Glu)
c.1018C>G (p.Gln340Glu)
n.122C>G
c.1786C>G (p.Gln596Glu)
c.1492C>G (p.Gln498Glu)
c.1012C>G (p.Gln338Glu)
c.994C>G (p.Gln332Glu)
c.1945C>G (p.Gln649Glu)
c.1816C>G (p.Gln606Glu)
c.1756C>G (p.Gln586Glu)
c.2041C>G (p.Gln681Glu)
c.2011C>G (p.Gln671Glu)
c.1852C>G (p.Gln618Glu)
c.1804C>G (p.Gln602Glu)
c.1627C>G (p.Gln543Glu)
c.1579C>G (p.Gln527Glu)
c.970C>G (p.Gln324Glu)
n.2065C>G
c.1621C>G (p.Gln541Glu)
c.1678C>G (p.Gln560Glu)
c.1717C>G (p.Gln573Glu)
c.1384C>G (p.Gln462Glu)
n.1957C>G
n.1848C>G
1g.243426488C>TCA345667776SDCCAG8c.1915C>T (p.Gln639Ter)
c.1018C>T (p.Gln340Ter)
n.122C>T
c.1786C>T (p.Gln596Ter)
c.1492C>T (p.Gln498Ter)
c.1012C>T (p.Gln338Ter)
c.994C>T (p.Gln332Ter)
c.1945C>T (p.Gln649Ter)
c.1816C>T (p.Gln606Ter)
c.1756C>T (p.Gln586Ter)
c.2041C>T (p.Gln681Ter)
c.2011C>T (p.Gln671Ter)
c.1852C>T (p.Gln618Ter)
c.1804C>T (p.Gln602Ter)
c.1627C>T (p.Gln543Ter)
c.1579C>T (p.Gln527Ter)
c.970C>T (p.Gln324Ter)
n.2065C>T
c.1621C>T (p.Gln541Ter)
c.1678C>T (p.Gln560Ter)
c.1717C>T (p.Gln573Ter)
c.1384C>T (p.Gln462Ter)
n.1957C>T
n.1848C>T
1g.243426489delCA2651305520SDCCAG8c.1916del (p.Gln639ArgfsTer21)
c.1019del (p.Gln340ArgfsTer21)
n.123del
c.1787del (p.Gln596ArgfsTer21)
c.1493del (p.Gln498ArgfsTer21)
c.1013del (p.Gln338ArgfsTer21)
c.995del (p.Gln332ArgfsTer21)
c.1946del (p.Gln649ArgfsTer21)
c.1817del (p.Gln606ArgfsTer21)
c.1757del (p.Gln586ArgfsTer21)
c.2042del (p.Gln681ArgfsTer21)
c.2012del (p.Gln671ArgfsTer21)
c.1853del (p.Gln618ArgfsTer21)
c.1805del (p.Gln602ArgfsTer21)
c.1628del (p.Gln543ArgfsTer21)
c.1580del (p.Gln527ArgfsTer21)
c.971del (p.Gln324ArgfsTer21)
n.2066del
c.1622del (p.Gln541ArgfsTer21)
c.1679del (p.Gln560ArgfsTer21)
c.1718del (p.Gln573ArgfsTer21)
c.1385del (p.Gln462ArgfsTer21)
n.1958del
n.1849del
 gnomAD v4
1g.243426489A>CCA345667777SDCCAG8c.1916A>C (p.Gln639Pro)
c.1019A>C (p.Gln340Pro)
n.123A>C
c.1787A>C (p.Gln596Pro)
c.1493A>C (p.Gln498Pro)
c.1013A>C (p.Gln338Pro)
c.995A>C (p.Gln332Pro)
c.1946A>C (p.Gln649Pro)
c.1817A>C (p.Gln606Pro)
c.1757A>C (p.Gln586Pro)
c.2042A>C (p.Gln681Pro)
c.2012A>C (p.Gln671Pro)
c.1853A>C (p.Gln618Pro)
c.1805A>C (p.Gln602Pro)
c.1628A>C (p.Gln543Pro)
c.1580A>C (p.Gln527Pro)
c.971A>C (p.Gln324Pro)
n.2066A>C
c.1622A>C (p.Gln541Pro)
c.1679A>C (p.Gln560Pro)
c.1718A>C (p.Gln573Pro)
c.1385A>C (p.Gln462Pro)
n.1958A>C
n.1849A>C
1g.243426489A>GCA345667778SDCCAG8c.1916A>G (p.Gln639Arg)
c.1019A>G (p.Gln340Arg)
n.123A>G
c.1787A>G (p.Gln596Arg)
c.1493A>G (p.Gln498Arg)
c.1013A>G (p.Gln338Arg)
c.995A>G (p.Gln332Arg)
c.1946A>G (p.Gln649Arg)
c.1817A>G (p.Gln606Arg)
c.1757A>G (p.Gln586Arg)
c.2042A>G (p.Gln681Arg)
c.2012A>G (p.Gln671Arg)
c.1853A>G (p.Gln618Arg)
c.1805A>G (p.Gln602Arg)
c.1628A>G (p.Gln543Arg)
c.1580A>G (p.Gln527Arg)
c.971A>G (p.Gln324Arg)
n.2066A>G
c.1622A>G (p.Gln541Arg)
c.1679A>G (p.Gln560Arg)
c.1718A>G (p.Gln573Arg)
c.1385A>G (p.Gln462Arg)
n.1958A>G
n.1849A>G
1g.243426489A>TCA345667779SDCCAG8c.1916A>T (p.Gln639Leu)
c.1019A>T (p.Gln340Leu)
n.123A>T
c.1787A>T (p.Gln596Leu)
c.1493A>T (p.Gln498Leu)
c.1013A>T (p.Gln338Leu)
c.995A>T (p.Gln332Leu)
c.1946A>T (p.Gln649Leu)
c.1817A>T (p.Gln606Leu)
c.1757A>T (p.Gln586Leu)
c.2042A>T (p.Gln681Leu)
c.2012A>T (p.Gln671Leu)
c.1853A>T (p.Gln618Leu)
c.1805A>T (p.Gln602Leu)
c.1628A>T (p.Gln543Leu)
c.1580A>T (p.Gln527Leu)
c.971A>T (p.Gln324Leu)
n.2066A>T
c.1622A>T (p.Gln541Leu)
c.1679A>T (p.Gln560Leu)
c.1718A>T (p.Gln573Leu)
c.1385A>T (p.Gln462Leu)
n.1958A>T
n.1849A>T
1g.243426490G>ACA424346868SDCCAG8c.1917G>A (p.Gln639=)
c.1020G>A (p.Gln340=)
n.124G>A
c.1788G>A (p.Gln596=)
c.1494G>A (p.Gln498=)
c.1014G>A (p.Gln338=)
c.996G>A (p.Gln332=)
c.1947G>A (p.Gln649=)
c.1818G>A (p.Gln606=)
c.1758G>A (p.Gln586=)
c.2043G>A (p.Gln681=)
c.2013G>A (p.Gln671=)
c.1854G>A (p.Gln618=)
c.1806G>A (p.Gln602=)
c.1629G>A (p.Gln543=)
c.1581G>A (p.Gln527=)
c.972G>A (p.Gln324=)
n.2067G>A
c.1623G>A (p.Gln541=)
c.1680G>A (p.Gln560=)
c.1719G>A (p.Gln573=)
c.1386G>A (p.Gln462=)
n.1959G>A
n.1850G>A
1g.243426490G>CCA345667780SDCCAG8c.1917G>C (p.Gln639His)
c.1020G>C (p.Gln340His)
n.124G>C
c.1788G>C (p.Gln596His)
c.1494G>C (p.Gln498His)
c.1014G>C (p.Gln338His)
c.996G>C (p.Gln332His)
c.1947G>C (p.Gln649His)
c.1818G>C (p.Gln606His)
c.1758G>C (p.Gln586His)
c.2043G>C (p.Gln681His)
c.2013G>C (p.Gln671His)
c.1854G>C (p.Gln618His)
c.1806G>C (p.Gln602His)
c.1629G>C (p.Gln543His)
c.1581G>C (p.Gln527His)
c.972G>C (p.Gln324His)
n.2067G>C
c.1623G>C (p.Gln541His)
c.1680G>C (p.Gln560His)
c.1719G>C (p.Gln573His)
c.1386G>C (p.Gln462His)
n.1959G>C
n.1850G>C
 gnomAD v4
1g.243426490G>TCA345667781SDCCAG8c.1917G>T (p.Gln639His)
c.1020G>T (p.Gln340His)
n.124G>T
c.1788G>T (p.Gln596His)
c.1494G>T (p.Gln498His)
c.1014G>T (p.Gln338His)
c.996G>T (p.Gln332His)
c.1947G>T (p.Gln649His)
c.1818G>T (p.Gln606His)
c.1758G>T (p.Gln586His)
c.2043G>T (p.Gln681His)
c.2013G>T (p.Gln671His)
c.1854G>T (p.Gln618His)
c.1806G>T (p.Gln602His)
c.1629G>T (p.Gln543His)
c.1581G>T (p.Gln527His)
c.972G>T (p.Gln324His)
n.2067G>T
c.1623G>T (p.Gln541His)
c.1680G>T (p.Gln560His)
c.1719G>T (p.Gln573His)
c.1386G>T (p.Gln462His)
n.1959G>T
n.1850G>T
1g.243426491A>CCA424346869SDCCAG8c.1918A>C (p.Arg640=)
c.1021A>C (p.Arg341=)
n.125A>C
c.1789A>C (p.Arg597=)
c.1495A>C (p.Arg499=)
c.1015A>C (p.Arg339=)
c.997A>C (p.Arg333=)
c.1948A>C (p.Arg650=)
c.1819A>C (p.Arg607=)
c.1759A>C (p.Arg587=)
c.2044A>C (p.Arg682=)
c.2014A>C (p.Arg672=)
c.1855A>C (p.Arg619=)
c.1807A>C (p.Arg603=)
c.1630A>C (p.Arg544=)
c.1582A>C (p.Arg528=)
c.973A>C (p.Arg325=)
n.2068A>C
c.1624A>C (p.Arg542=)
c.1681A>C (p.Arg561=)
c.1720A>C (p.Arg574=)
c.1387A>C (p.Arg463=)
n.1960A>C
n.1851A>C
1g.243426491A>GCA345667782SDCCAG8c.1918A>G (p.Arg640Gly)
c.1021A>G (p.Arg341Gly)
n.125A>G
c.1789A>G (p.Arg597Gly)
c.1495A>G (p.Arg499Gly)
c.1015A>G (p.Arg339Gly)
c.997A>G (p.Arg333Gly)
c.1948A>G (p.Arg650Gly)
c.1819A>G (p.Arg607Gly)
c.1759A>G (p.Arg587Gly)
c.2044A>G (p.Arg682Gly)
c.2014A>G (p.Arg672Gly)
c.1855A>G (p.Arg619Gly)
c.1807A>G (p.Arg603Gly)
c.1630A>G (p.Arg544Gly)
c.1582A>G (p.Arg528Gly)
c.973A>G (p.Arg325Gly)
n.2068A>G
c.1624A>G (p.Arg542Gly)
c.1681A>G (p.Arg561Gly)
c.1720A>G (p.Arg574Gly)
c.1387A>G (p.Arg463Gly)
n.1960A>G
n.1851A>G
 gnomAD v4
1g.243426491A>TCA345667783SDCCAG8c.1918A>T (p.Arg640Ter)
c.1021A>T (p.Arg341Ter)
n.125A>T
c.1789A>T (p.Arg597Ter)
c.1495A>T (p.Arg499Ter)
c.1015A>T (p.Arg339Ter)
c.997A>T (p.Arg333Ter)
c.1948A>T (p.Arg650Ter)
c.1819A>T (p.Arg607Ter)
c.1759A>T (p.Arg587Ter)
c.2044A>T (p.Arg682Ter)
c.2014A>T (p.Arg672Ter)
c.1855A>T (p.Arg619Ter)
c.1807A>T (p.Arg603Ter)
c.1630A>T (p.Arg544Ter)
c.1582A>T (p.Arg528Ter)
c.973A>T (p.Arg325Ter)
n.2068A>T
c.1624A>T (p.Arg542Ter)
c.1681A>T (p.Arg561Ter)
c.1720A>T (p.Arg574Ter)
c.1387A>T (p.Arg463Ter)
n.1960A>T
n.1851A>T
1g.243426492G>ACA345667784SDCCAG8c.1919G>A (p.Arg640Lys)
c.1022G>A (p.Arg341Lys)
n.126G>A
c.1790G>A (p.Arg597Lys)
c.1496G>A (p.Arg499Lys)
c.1016G>A (p.Arg339Lys)
c.998G>A (p.Arg333Lys)
c.1949G>A (p.Arg650Lys)
c.1820G>A (p.Arg607Lys)
c.1760G>A (p.Arg587Lys)
c.2045G>A (p.Arg682Lys)
c.2015G>A (p.Arg672Lys)
c.1856G>A (p.Arg619Lys)
c.1808G>A (p.Arg603Lys)
c.1631G>A (p.Arg544Lys)
c.1583G>A (p.Arg528Lys)
c.974G>A (p.Arg325Lys)
n.2069G>A
c.1625G>A (p.Arg542Lys)
c.1682G>A (p.Arg561Lys)
c.1721G>A (p.Arg574Lys)
c.1388G>A (p.Arg463Lys)
n.1961G>A
n.1852G>A
1g.243426492G>CCA345667785SDCCAG8c.1919G>C (p.Arg640Thr)
c.1022G>C (p.Arg341Thr)
n.126G>C
c.1790G>C (p.Arg597Thr)
c.1496G>C (p.Arg499Thr)
c.1016G>C (p.Arg339Thr)
c.998G>C (p.Arg333Thr)
c.1949G>C (p.Arg650Thr)
c.1820G>C (p.Arg607Thr)
c.1760G>C (p.Arg587Thr)
c.2045G>C (p.Arg682Thr)
c.2015G>C (p.Arg672Thr)
c.1856G>C (p.Arg619Thr)
c.1808G>C (p.Arg603Thr)
c.1631G>C (p.Arg544Thr)
c.1583G>C (p.Arg528Thr)
c.974G>C (p.Arg325Thr)
n.2069G>C
c.1625G>C (p.Arg542Thr)
c.1682G>C (p.Arg561Thr)
c.1721G>C (p.Arg574Thr)
c.1388G>C (p.Arg463Thr)
n.1961G>C
n.1852G>C
1g.243426492G>TCA345667786SDCCAG8c.1919G>T (p.Arg640Ile)
c.1022G>T (p.Arg341Ile)
n.126G>T
c.1790G>T (p.Arg597Ile)
c.1496G>T (p.Arg499Ile)
c.1016G>T (p.Arg339Ile)
c.998G>T (p.Arg333Ile)
c.1949G>T (p.Arg650Ile)
c.1820G>T (p.Arg607Ile)
c.1760G>T (p.Arg587Ile)
c.2045G>T (p.Arg682Ile)
c.2015G>T (p.Arg672Ile)
c.1856G>T (p.Arg619Ile)
c.1808G>T (p.Arg603Ile)
c.1631G>T (p.Arg544Ile)
c.1583G>T (p.Arg528Ile)
c.974G>T (p.Arg325Ile)
n.2069G>T
c.1625G>T (p.Arg542Ile)
c.1682G>T (p.Arg561Ile)
c.1721G>T (p.Arg574Ile)
c.1388G>T (p.Arg463Ile)
n.1961G>T
n.1852G>T
1g.243426493A>CCA345667787SDCCAG8c.1920A>C (p.Arg640Ser)
c.1023A>C (p.Arg341Ser)
n.127A>C
c.1791A>C (p.Arg597Ser)
c.1497A>C (p.Arg499Ser)
c.1017A>C (p.Arg339Ser)
c.999A>C (p.Arg333Ser)
c.1950A>C (p.Arg650Ser)
c.1821A>C (p.Arg607Ser)
c.1761A>C (p.Arg587Ser)
c.2046A>C (p.Arg682Ser)
c.2016A>C (p.Arg672Ser)
c.1857A>C (p.Arg619Ser)
c.1809A>C (p.Arg603Ser)
c.1632A>C (p.Arg544Ser)
c.1584A>C (p.Arg528Ser)
c.975A>C (p.Arg325Ser)
n.2070A>C
c.1626A>C (p.Arg542Ser)
c.1683A>C (p.Arg561Ser)
c.1722A>C (p.Arg574Ser)
c.1389A>C (p.Arg463Ser)
n.1962A>C
n.1853A>C
1g.243426493A>GCA424346870SDCCAG8c.1920A>G (p.Arg640=)
c.1023A>G (p.Arg341=)
n.127A>G
c.1791A>G (p.Arg597=)
c.1497A>G (p.Arg499=)
c.1017A>G (p.Arg339=)
c.999A>G (p.Arg333=)
c.1950A>G (p.Arg650=)
c.1821A>G (p.Arg607=)
c.1761A>G (p.Arg587=)
c.2046A>G (p.Arg682=)
c.2016A>G (p.Arg672=)
c.1857A>G (p.Arg619=)
c.1809A>G (p.Arg603=)
c.1632A>G (p.Arg544=)
c.1584A>G (p.Arg528=)
c.975A>G (p.Arg325=)
n.2070A>G
c.1626A>G (p.Arg542=)
c.1683A>G (p.Arg561=)
c.1722A>G (p.Arg574=)
c.1389A>G (p.Arg463=)
n.1962A>G
n.1853A>G
1g.243426493A>TCA345667788SDCCAG8c.1920A>T (p.Arg640Ser)
c.1023A>T (p.Arg341Ser)
n.127A>T
c.1791A>T (p.Arg597Ser)
c.1497A>T (p.Arg499Ser)
c.1017A>T (p.Arg339Ser)
c.999A>T (p.Arg333Ser)
c.1950A>T (p.Arg650Ser)
c.1821A>T (p.Arg607Ser)
c.1761A>T (p.Arg587Ser)
c.2046A>T (p.Arg682Ser)
c.2016A>T (p.Arg672Ser)
c.1857A>T (p.Arg619Ser)
c.1809A>T (p.Arg603Ser)
c.1632A>T (p.Arg544Ser)
c.1584A>T (p.Arg528Ser)
c.975A>T (p.Arg325Ser)
n.2070A>T
c.1626A>T (p.Arg542Ser)
c.1683A>T (p.Arg561Ser)
c.1722A>T (p.Arg574Ser)
c.1389A>T (p.Arg463Ser)
n.1962A>T
n.1853A>T
1g.243426494A=CA1144774110SDCCAG8c.1921A= (p.Arg641=)
c.1024A= (p.Arg342=)
n.128A=
c.1792A= (p.Arg598=)
c.1498A= (p.Arg500=)
c.1018A= (p.Arg340=)
c.1000A= (p.Arg334=)
c.1951A= (p.Arg651=)
c.1822A= (p.Arg608=)
c.1762A= (p.Arg588=)
c.2047A= (p.Arg683=)
c.2017A= (p.Arg673=)
c.1858A= (p.Arg620=)
c.1810A= (p.Arg604=)
c.1633A= (p.Arg545=)
c.1585A= (p.Arg529=)
c.976A= (p.Arg326=)
n.2071A=
c.1627A= (p.Arg543=)
c.1684A= (p.Arg562=)
c.1723A= (p.Arg575=)
c.1390A= (p.Arg464=)
n.1963A=
n.1854A=
1g.243426494A>CCA1483777SDCCAG8c.1921A>C (p.Arg641=)
c.1024A>C (p.Arg342=)
n.128A>C
c.1792A>C (p.Arg598=)
c.1498A>C (p.Arg500=)
c.1018A>C (p.Arg340=)
c.1000A>C (p.Arg334=)
c.1951A>C (p.Arg651=)
c.1822A>C (p.Arg608=)
c.1762A>C (p.Arg588=)
c.2047A>C (p.Arg683=)
c.2017A>C (p.Arg673=)
c.1858A>C (p.Arg620=)
c.1810A>C (p.Arg604=)
c.1633A>C (p.Arg545=)
c.1585A>C (p.Arg529=)
c.976A>C (p.Arg326=)
n.2071A>C
c.1627A>C (p.Arg543=)
c.1684A>C (p.Arg562=)
c.1723A>C (p.Arg575=)
c.1390A>C (p.Arg464=)
n.1963A>C
n.1854A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426494A>GCA345667790SDCCAG8c.1921A>G (p.Arg641Gly)
c.1024A>G (p.Arg342Gly)
n.128A>G
c.1792A>G (p.Arg598Gly)
c.1498A>G (p.Arg500Gly)
c.1018A>G (p.Arg340Gly)
c.1000A>G (p.Arg334Gly)
c.1951A>G (p.Arg651Gly)
c.1822A>G (p.Arg608Gly)
c.1762A>G (p.Arg588Gly)
c.2047A>G (p.Arg683Gly)
c.2017A>G (p.Arg673Gly)
c.1858A>G (p.Arg620Gly)
c.1810A>G (p.Arg604Gly)
c.1633A>G (p.Arg545Gly)
c.1585A>G (p.Arg529Gly)
c.976A>G (p.Arg326Gly)
n.2071A>G
c.1627A>G (p.Arg543Gly)
c.1684A>G (p.Arg562Gly)
c.1723A>G (p.Arg575Gly)
c.1390A>G (p.Arg464Gly)
n.1963A>G
n.1854A>G
1g.243426494A>TCA345667789SDCCAG8c.1921A>T (p.Arg641Ter)
c.1024A>T (p.Arg342Ter)
n.128A>T
c.1792A>T (p.Arg598Ter)
c.1498A>T (p.Arg500Ter)
c.1018A>T (p.Arg340Ter)
c.1000A>T (p.Arg334Ter)
c.1951A>T (p.Arg651Ter)
c.1822A>T (p.Arg608Ter)
c.1762A>T (p.Arg588Ter)
c.2047A>T (p.Arg683Ter)
c.2017A>T (p.Arg673Ter)
c.1858A>T (p.Arg620Ter)
c.1810A>T (p.Arg604Ter)
c.1633A>T (p.Arg545Ter)
c.1585A>T (p.Arg529Ter)
c.976A>T (p.Arg326Ter)
n.2071A>T
c.1627A>T (p.Arg543Ter)
c.1684A>T (p.Arg562Ter)
c.1723A>T (p.Arg575Ter)
c.1390A>T (p.Arg464Ter)
n.1963A>T
n.1854A>T
1g.243426495G>ACA345667791SDCCAG8c.1922G>A (p.Arg641Lys)
c.1025G>A (p.Arg342Lys)
n.129G>A
c.1793G>A (p.Arg598Lys)
c.1499G>A (p.Arg500Lys)
c.1019G>A (p.Arg340Lys)
c.1001G>A (p.Arg334Lys)
c.1952G>A (p.Arg651Lys)
c.1823G>A (p.Arg608Lys)
c.1763G>A (p.Arg588Lys)
c.2048G>A (p.Arg683Lys)
c.2018G>A (p.Arg673Lys)
c.1859G>A (p.Arg620Lys)
c.1811G>A (p.Arg604Lys)
c.1634G>A (p.Arg545Lys)
c.1586G>A (p.Arg529Lys)
c.977G>A (p.Arg326Lys)
n.2072G>A
c.1628G>A (p.Arg543Lys)
c.1685G>A (p.Arg562Lys)
c.1724G>A (p.Arg575Lys)
c.1391G>A (p.Arg464Lys)
n.1964G>A
n.1855G>A
1g.243426495G>CCA345667792SDCCAG8c.1922G>C (p.Arg641Thr)
c.1025G>C (p.Arg342Thr)
n.129G>C
c.1793G>C (p.Arg598Thr)
c.1499G>C (p.Arg500Thr)
c.1019G>C (p.Arg340Thr)
c.1001G>C (p.Arg334Thr)
c.1952G>C (p.Arg651Thr)
c.1823G>C (p.Arg608Thr)
c.1763G>C (p.Arg588Thr)
c.2048G>C (p.Arg683Thr)
c.2018G>C (p.Arg673Thr)
c.1859G>C (p.Arg620Thr)
c.1811G>C (p.Arg604Thr)
c.1634G>C (p.Arg545Thr)
c.1586G>C (p.Arg529Thr)
c.977G>C (p.Arg326Thr)
n.2072G>C
c.1628G>C (p.Arg543Thr)
c.1685G>C (p.Arg562Thr)
c.1724G>C (p.Arg575Thr)
c.1391G>C (p.Arg464Thr)
n.1964G>C
n.1855G>C
1g.243426495G=CA1230390608SDCCAG8c.1922G= (p.Arg641=)
c.1025G= (p.Arg342=)
n.129G=
c.1793G= (p.Arg598=)
c.1499G= (p.Arg500=)
c.1019G= (p.Arg340=)
c.1001G= (p.Arg334=)
c.1952G= (p.Arg651=)
c.1823G= (p.Arg608=)
c.1763G= (p.Arg588=)
c.2048G= (p.Arg683=)
c.2018G= (p.Arg673=)
c.1859G= (p.Arg620=)
c.1811G= (p.Arg604=)
c.1634G= (p.Arg545=)
c.1586G= (p.Arg529=)
c.977G= (p.Arg326=)
n.2072G=
c.1628G= (p.Arg543=)
c.1685G= (p.Arg562=)
c.1724G= (p.Arg575=)
c.1391G= (p.Arg464=)
n.1964G=
n.1855G=
1g.243426495G>TCA345667793SDCCAG8c.1922G>T (p.Arg641Ile)
c.1025G>T (p.Arg342Ile)
n.129G>T
c.1793G>T (p.Arg598Ile)
c.1499G>T (p.Arg500Ile)
c.1019G>T (p.Arg340Ile)
c.1001G>T (p.Arg334Ile)
c.1952G>T (p.Arg651Ile)
c.1823G>T (p.Arg608Ile)
c.1763G>T (p.Arg588Ile)
c.2048G>T (p.Arg683Ile)
c.2018G>T (p.Arg673Ile)
c.1859G>T (p.Arg620Ile)
c.1811G>T (p.Arg604Ile)
c.1634G>T (p.Arg545Ile)
c.1586G>T (p.Arg529Ile)
c.977G>T (p.Arg326Ile)
n.2072G>T
c.1628G>T (p.Arg543Ile)
c.1685G>T (p.Arg562Ile)
c.1724G>T (p.Arg575Ile)
c.1391G>T (p.Arg464Ile)
n.1964G>T
n.1855G>T
 COSMIC
1g.243426496A>CCA345667794SDCCAG8c.1923A>C (p.Arg641Ser)
c.1026A>C (p.Arg342Ser)
n.130A>C
c.1794A>C (p.Arg598Ser)
c.1500A>C (p.Arg500Ser)
c.1020A>C (p.Arg340Ser)
c.1002A>C (p.Arg334Ser)
c.1953A>C (p.Arg651Ser)
c.1824A>C (p.Arg608Ser)
c.1764A>C (p.Arg588Ser)
c.2049A>C (p.Arg683Ser)
c.2019A>C (p.Arg673Ser)
c.1860A>C (p.Arg620Ser)
c.1812A>C (p.Arg604Ser)
c.1635A>C (p.Arg545Ser)
c.1587A>C (p.Arg529Ser)
c.978A>C (p.Arg326Ser)
n.2073A>C
c.1629A>C (p.Arg543Ser)
c.1686A>C (p.Arg562Ser)
c.1725A>C (p.Arg575Ser)
c.1392A>C (p.Arg464Ser)
n.1965A>C
n.1856A>C
1g.243426496A>GCA424346871SDCCAG8c.1923A>G (p.Arg641=)
c.1026A>G (p.Arg342=)
n.130A>G
c.1794A>G (p.Arg598=)
c.1500A>G (p.Arg500=)
c.1020A>G (p.Arg340=)
c.1002A>G (p.Arg334=)
c.1953A>G (p.Arg651=)
c.1824A>G (p.Arg608=)
c.1764A>G (p.Arg588=)
c.2049A>G (p.Arg683=)
c.2019A>G (p.Arg673=)
c.1860A>G (p.Arg620=)
c.1812A>G (p.Arg604=)
c.1635A>G (p.Arg545=)
c.1587A>G (p.Arg529=)
c.978A>G (p.Arg326=)
n.2073A>G
c.1629A>G (p.Arg543=)
c.1686A>G (p.Arg562=)
c.1725A>G (p.Arg575=)
c.1392A>G (p.Arg464=)
n.1965A>G
n.1856A>G
1g.243426496A>TCA345667795SDCCAG8c.1923A>T (p.Arg641Ser)
c.1026A>T (p.Arg342Ser)
n.130A>T
c.1794A>T (p.Arg598Ser)
c.1500A>T (p.Arg500Ser)
c.1020A>T (p.Arg340Ser)
c.1002A>T (p.Arg334Ser)
c.1953A>T (p.Arg651Ser)
c.1824A>T (p.Arg608Ser)
c.1764A>T (p.Arg588Ser)
c.2049A>T (p.Arg683Ser)
c.2019A>T (p.Arg673Ser)
c.1860A>T (p.Arg620Ser)
c.1812A>T (p.Arg604Ser)
c.1635A>T (p.Arg545Ser)
c.1587A>T (p.Arg529Ser)
c.978A>T (p.Arg326Ser)
n.2073A>T
c.1629A>T (p.Arg543Ser)
c.1686A>T (p.Arg562Ser)
c.1725A>T (p.Arg575Ser)
c.1392A>T (p.Arg464Ser)
n.1965A>T
n.1856A>T
1g.243426496_243426498delinsAAACA1140501393SDCCAG8c.1923_1925delinsAAA (p.Arg641=)
c.1026_1028delinsAAA (p.Arg342=)
n.130_132delinsAAA
c.1794_1796delinsAAA (p.Arg598=)
c.1500_1502delinsAAA (p.Arg500=)
c.1020_1022delinsAAA (p.Arg340=)
c.1002_1004delinsAAA (p.Arg334=)
c.1953_1955delinsAAA (p.Arg651=)
c.1824_1826delinsAAA (p.Arg608=)
c.1764_1766delinsAAA (p.Arg588=)
c.2049_2051delinsAAA (p.Arg683=)
c.2019_2021delinsAAA (p.Arg673=)
c.1860_1862delinsAAA (p.Arg620=)
c.1812_1814delinsAAA (p.Arg604=)
c.1635_1637delinsAAA (p.Arg545=)
c.1587_1589delinsAAA (p.Arg529=)
c.978_980delinsAAA (p.Arg326=)
n.2073_2075delinsAAA
c.1629_1631delinsAAA (p.Arg543=)
c.1686_1688delinsAAA (p.Arg562=)
c.1725_1727delinsAAA (p.Arg575=)
c.1392_1394delinsAAA (p.Arg464=)
n.1965_1967delinsAAA
n.1856_1858delinsAAA
1g.243426498dupCA41009607SDCCAG8c.1925dup (p.Asn642LysfsTer2)
c.1028dup (p.Asn343LysfsTer2)
n.132dup
c.1796dup (p.Asn599LysfsTer2)
c.1502dup (p.Asn501LysfsTer2)
c.1022dup (p.Asn341LysfsTer2)
c.1004dup (p.Asn335LysfsTer2)
c.1955dup (p.Asn652LysfsTer2)
c.1826dup (p.Asn609LysfsTer2)
c.1766dup (p.Asn589LysfsTer2)
c.2051dup (p.Asn684LysfsTer2)
c.2021dup (p.Asn674LysfsTer2)
c.1862dup (p.Asn621LysfsTer2)
c.1814dup (p.Asn605LysfsTer2)
c.1637dup (p.Asn546LysfsTer2)
c.1589dup (p.Asn530LysfsTer2)
c.980dup (p.Asn327LysfsTer2)
n.2075dup
c.1631dup (p.Asn544LysfsTer2)
c.1688dup (p.Asn563LysfsTer2)
c.1727dup (p.Asn576LysfsTer2)
c.1394dup (p.Asn465LysfsTer2)
n.1967dup
n.1858dup
 dbSNP
1g.243426497A=CA1230390609SDCCAG8c.1924A= (p.Asn642=)
c.1027A= (p.Asn343=)
n.131A=
c.1795A= (p.Asn599=)
c.1501A= (p.Asn501=)
c.1021A= (p.Asn341=)
c.1003A= (p.Asn335=)
c.1954A= (p.Asn652=)
c.1825A= (p.Asn609=)
c.1765A= (p.Asn589=)
c.2050A= (p.Asn684=)
c.2020A= (p.Asn674=)
c.1861A= (p.Asn621=)
c.1813A= (p.Asn605=)
c.1636A= (p.Asn546=)
c.1588A= (p.Asn530=)
c.979A= (p.Asn327=)
n.2074A=
c.1630A= (p.Asn544=)
c.1687A= (p.Asn563=)
c.1726A= (p.Asn576=)
c.1393A= (p.Asn465=)
n.1966A=
n.1857A=
1g.243426497A>CCA345667797SDCCAG8c.1924A>C (p.Asn642His)
c.1027A>C (p.Asn343His)
n.131A>C
c.1795A>C (p.Asn599His)
c.1501A>C (p.Asn501His)
c.1021A>C (p.Asn341His)
c.1003A>C (p.Asn335His)
c.1954A>C (p.Asn652His)
c.1825A>C (p.Asn609His)
c.1765A>C (p.Asn589His)
c.2050A>C (p.Asn684His)
c.2020A>C (p.Asn674His)
c.1861A>C (p.Asn621His)
c.1813A>C (p.Asn605His)
c.1636A>C (p.Asn546His)
c.1588A>C (p.Asn530His)
c.979A>C (p.Asn327His)
n.2074A>C
c.1630A>C (p.Asn544His)
c.1687A>C (p.Asn563His)
c.1726A>C (p.Asn576His)
c.1393A>C (p.Asn465His)
n.1966A>C
n.1857A>C
1g.243426497A>GCA41009608SDCCAG8c.1924A>G (p.Asn642Asp)
c.1027A>G (p.Asn343Asp)
n.131A>G
c.1795A>G (p.Asn599Asp)
c.1501A>G (p.Asn501Asp)
c.1021A>G (p.Asn341Asp)
c.1003A>G (p.Asn335Asp)
c.1954A>G (p.Asn652Asp)
c.1825A>G (p.Asn609Asp)
c.1765A>G (p.Asn589Asp)
c.2050A>G (p.Asn684Asp)
c.2020A>G (p.Asn674Asp)
c.1861A>G (p.Asn621Asp)
c.1813A>G (p.Asn605Asp)
c.1636A>G (p.Asn546Asp)
c.1588A>G (p.Asn530Asp)
c.979A>G (p.Asn327Asp)
n.2074A>G
c.1630A>G (p.Asn544Asp)
c.1687A>G (p.Asn563Asp)
c.1726A>G (p.Asn576Asp)
c.1393A>G (p.Asn465Asp)
n.1966A>G
n.1857A>G
 dbSNP gnomAD v2 gnomAD v4
1g.243426497A>TCA345667796SDCCAG8c.1924A>T (p.Asn642Tyr)
c.1027A>T (p.Asn343Tyr)
n.131A>T
c.1795A>T (p.Asn599Tyr)
c.1501A>T (p.Asn501Tyr)
c.1021A>T (p.Asn341Tyr)
c.1003A>T (p.Asn335Tyr)
c.1954A>T (p.Asn652Tyr)
c.1825A>T (p.Asn609Tyr)
c.1765A>T (p.Asn589Tyr)
c.2050A>T (p.Asn684Tyr)
c.2020A>T (p.Asn674Tyr)
c.1861A>T (p.Asn621Tyr)
c.1813A>T (p.Asn605Tyr)
c.1636A>T (p.Asn546Tyr)
c.1588A>T (p.Asn530Tyr)
c.979A>T (p.Asn327Tyr)
n.2074A>T
c.1630A>T (p.Asn544Tyr)
c.1687A>T (p.Asn563Tyr)
c.1726A>T (p.Asn576Tyr)
c.1393A>T (p.Asn465Tyr)
n.1966A>T
n.1857A>T
1g.243426498A>CCA345667798SDCCAG8c.1925A>C (p.Asn642Thr)
c.1028A>C (p.Asn343Thr)
n.132A>C
c.1796A>C (p.Asn599Thr)
c.1502A>C (p.Asn501Thr)
c.1022A>C (p.Asn341Thr)
c.1004A>C (p.Asn335Thr)
c.1955A>C (p.Asn652Thr)
c.1826A>C (p.Asn609Thr)
c.1766A>C (p.Asn589Thr)
c.2051A>C (p.Asn684Thr)
c.2021A>C (p.Asn674Thr)
c.1862A>C (p.Asn621Thr)
c.1814A>C (p.Asn605Thr)
c.1637A>C (p.Asn546Thr)
c.1589A>C (p.Asn530Thr)
c.980A>C (p.Asn327Thr)
n.2075A>C
c.1631A>C (p.Asn544Thr)
c.1688A>C (p.Asn563Thr)
c.1727A>C (p.Asn576Thr)
c.1394A>C (p.Asn465Thr)
n.1967A>C
n.1858A>C
1g.243426498A>GCA345667799SDCCAG8c.1925A>G (p.Asn642Ser)
c.1028A>G (p.Asn343Ser)
n.132A>G
c.1796A>G (p.Asn599Ser)
c.1502A>G (p.Asn501Ser)
c.1022A>G (p.Asn341Ser)
c.1004A>G (p.Asn335Ser)
c.1955A>G (p.Asn652Ser)
c.1826A>G (p.Asn609Ser)
c.1766A>G (p.Asn589Ser)
c.2051A>G (p.Asn684Ser)
c.2021A>G (p.Asn674Ser)
c.1862A>G (p.Asn621Ser)
c.1814A>G (p.Asn605Ser)
c.1637A>G (p.Asn546Ser)
c.1589A>G (p.Asn530Ser)
c.980A>G (p.Asn327Ser)
n.2075A>G
c.1631A>G (p.Asn544Ser)
c.1688A>G (p.Asn563Ser)
c.1727A>G (p.Asn576Ser)
c.1394A>G (p.Asn465Ser)
n.1967A>G
n.1858A>G
 gnomAD v4
1g.243426498A>TCA345667800SDCCAG8c.1925A>T (p.Asn642Ile)
c.1028A>T (p.Asn343Ile)
n.132A>T
c.1796A>T (p.Asn599Ile)
c.1502A>T (p.Asn501Ile)
c.1022A>T (p.Asn341Ile)
c.1004A>T (p.Asn335Ile)
c.1955A>T (p.Asn652Ile)
c.1826A>T (p.Asn609Ile)
c.1766A>T (p.Asn589Ile)
c.2051A>T (p.Asn684Ile)
c.2021A>T (p.Asn674Ile)
c.1862A>T (p.Asn621Ile)
c.1814A>T (p.Asn605Ile)
c.1637A>T (p.Asn546Ile)
c.1589A>T (p.Asn530Ile)
c.980A>T (p.Asn327Ile)
n.2075A>T
c.1631A>T (p.Asn544Ile)
c.1688A>T (p.Asn563Ile)
c.1727A>T (p.Asn576Ile)
c.1394A>T (p.Asn465Ile)
n.1967A>T
n.1858A>T
1g.243426499T>ACA345667801SDCCAG8c.1926T>A (p.Asn642Lys)
c.1029T>A (p.Asn343Lys)
n.133T>A
c.1797T>A (p.Asn599Lys)
c.1503T>A (p.Asn501Lys)
c.1023T>A (p.Asn341Lys)
c.1005T>A (p.Asn335Lys)
c.1956T>A (p.Asn652Lys)
c.1827T>A (p.Asn609Lys)
c.1767T>A (p.Asn589Lys)
c.2052T>A (p.Asn684Lys)
c.2022T>A (p.Asn674Lys)
c.1863T>A (p.Asn621Lys)
c.1815T>A (p.Asn605Lys)
c.1638T>A (p.Asn546Lys)
c.1590T>A (p.Asn530Lys)
c.981T>A (p.Asn327Lys)
n.2076T>A
c.1632T>A (p.Asn544Lys)
c.1689T>A (p.Asn563Lys)
c.1728T>A (p.Asn576Lys)
c.1395T>A (p.Asn465Lys)
n.1968T>A
n.1859T>A
1g.243426499T>CCA424346872SDCCAG8c.1926T>C (p.Asn642=)
c.1029T>C (p.Asn343=)
n.133T>C
c.1797T>C (p.Asn599=)
c.1503T>C (p.Asn501=)
c.1023T>C (p.Asn341=)
c.1005T>C (p.Asn335=)
c.1956T>C (p.Asn652=)
c.1827T>C (p.Asn609=)
c.1767T>C (p.Asn589=)
c.2052T>C (p.Asn684=)
c.2022T>C (p.Asn674=)
c.1863T>C (p.Asn621=)
c.1815T>C (p.Asn605=)
c.1638T>C (p.Asn546=)
c.1590T>C (p.Asn530=)
c.981T>C (p.Asn327=)
n.2076T>C
c.1632T>C (p.Asn544=)
c.1689T>C (p.Asn563=)
c.1728T>C (p.Asn576=)
c.1395T>C (p.Asn465=)
n.1968T>C
n.1859T>C
1g.243426499T>GCA345667802SDCCAG8c.1926T>G (p.Asn642Lys)
c.1029T>G (p.Asn343Lys)
n.133T>G
c.1797T>G (p.Asn599Lys)
c.1503T>G (p.Asn501Lys)
c.1023T>G (p.Asn341Lys)
c.1005T>G (p.Asn335Lys)
c.1956T>G (p.Asn652Lys)
c.1827T>G (p.Asn609Lys)
c.1767T>G (p.Asn589Lys)
c.2052T>G (p.Asn684Lys)
c.2022T>G (p.Asn674Lys)
c.1863T>G (p.Asn621Lys)
c.1815T>G (p.Asn605Lys)
c.1638T>G (p.Asn546Lys)
c.1590T>G (p.Asn530Lys)
c.981T>G (p.Asn327Lys)
n.2076T>G
c.1632T>G (p.Asn544Lys)
c.1689T>G (p.Asn563Lys)
c.1728T>G (p.Asn576Lys)
c.1395T>G (p.Asn465Lys)
n.1968T>G
n.1859T>G
 dbSNP
1g.243426499T=CA1230390610SDCCAG8c.1926T= (p.Asn642=)
c.1029T= (p.Asn343=)
n.133T=
c.1797T= (p.Asn599=)
c.1503T= (p.Asn501=)
c.1023T= (p.Asn341=)
c.1005T= (p.Asn335=)
c.1956T= (p.Asn652=)
c.1827T= (p.Asn609=)
c.1767T= (p.Asn589=)
c.2052T= (p.Asn684=)
c.2022T= (p.Asn674=)
c.1863T= (p.Asn621=)
c.1815T= (p.Asn605=)
c.1638T= (p.Asn546=)
c.1590T= (p.Asn530=)
c.981T= (p.Asn327=)
n.2076T=
c.1632T= (p.Asn544=)
c.1689T= (p.Asn563=)
c.1728T= (p.Asn576=)
c.1395T= (p.Asn465=)
n.1968T=
n.1859T=
1g.243426500G>ACA345667803SDCCAG8c.1927G>A (p.Glu643Lys)
c.1030G>A (p.Glu344Lys)
n.134G>A
c.1798G>A (p.Glu600Lys)
c.1504G>A (p.Glu502Lys)
c.1024G>A (p.Glu342Lys)
c.1006G>A (p.Glu336Lys)
c.1957G>A (p.Glu653Lys)
c.1828G>A (p.Glu610Lys)
c.1768G>A (p.Glu590Lys)
c.2053G>A (p.Glu685Lys)
c.2023G>A (p.Glu675Lys)
c.1864G>A (p.Glu622Lys)
c.1816G>A (p.Glu606Lys)
c.1639G>A (p.Glu547Lys)
c.1591G>A (p.Glu531Lys)
c.982G>A (p.Glu328Lys)
n.2077G>A
c.1633G>A (p.Glu545Lys)
c.1690G>A (p.Glu564Lys)
c.1729G>A (p.Glu577Lys)
c.1396G>A (p.Glu466Lys)
n.1969G>A
n.1860G>A
1g.243426500G>CCA345667804SDCCAG8c.1927G>C (p.Glu643Gln)
c.1030G>C (p.Glu344Gln)
n.134G>C
c.1798G>C (p.Glu600Gln)
c.1504G>C (p.Glu502Gln)
c.1024G>C (p.Glu342Gln)
c.1006G>C (p.Glu336Gln)
c.1957G>C (p.Glu653Gln)
c.1828G>C (p.Glu610Gln)
c.1768G>C (p.Glu590Gln)
c.2053G>C (p.Glu685Gln)
c.2023G>C (p.Glu675Gln)
c.1864G>C (p.Glu622Gln)
c.1816G>C (p.Glu606Gln)
c.1639G>C (p.Glu547Gln)
c.1591G>C (p.Glu531Gln)
c.982G>C (p.Glu328Gln)
n.2077G>C
c.1633G>C (p.Glu545Gln)
c.1690G>C (p.Glu564Gln)
c.1729G>C (p.Glu577Gln)
c.1396G>C (p.Glu466Gln)
n.1969G>C
n.1860G>C
1g.243426500G>TCA345667805SDCCAG8c.1927G>T (p.Glu643Ter)
c.1030G>T (p.Glu344Ter)
n.134G>T
c.1798G>T (p.Glu600Ter)
c.1504G>T (p.Glu502Ter)
c.1024G>T (p.Glu342Ter)
c.1006G>T (p.Glu336Ter)
c.1957G>T (p.Glu653Ter)
c.1828G>T (p.Glu610Ter)
c.1768G>T (p.Glu590Ter)
c.2053G>T (p.Glu685Ter)
c.2023G>T (p.Glu675Ter)
c.1864G>T (p.Glu622Ter)
c.1816G>T (p.Glu606Ter)
c.1639G>T (p.Glu547Ter)
c.1591G>T (p.Glu531Ter)
c.982G>T (p.Glu328Ter)
n.2077G>T
c.1633G>T (p.Glu545Ter)
c.1690G>T (p.Glu564Ter)
c.1729G>T (p.Glu577Ter)
c.1396G>T (p.Glu466Ter)
n.1969G>T
n.1860G>T
1g.243426501A>CCA345667806SDCCAG8c.1928A>C (p.Glu643Ala)
c.1031A>C (p.Glu344Ala)
n.135A>C
c.1799A>C (p.Glu600Ala)
c.1505A>C (p.Glu502Ala)
c.1025A>C (p.Glu342Ala)
c.1007A>C (p.Glu336Ala)
c.1958A>C (p.Glu653Ala)
c.1829A>C (p.Glu610Ala)
c.1769A>C (p.Glu590Ala)
c.2054A>C (p.Glu685Ala)
c.2024A>C (p.Glu675Ala)
c.1865A>C (p.Glu622Ala)
c.1817A>C (p.Glu606Ala)
c.1640A>C (p.Glu547Ala)
c.1592A>C (p.Glu531Ala)
c.983A>C (p.Glu328Ala)
n.2078A>C
c.1634A>C (p.Glu545Ala)
c.1691A>C (p.Glu564Ala)
c.1730A>C (p.Glu577Ala)
c.1397A>C (p.Glu466Ala)
n.1970A>C
n.1861A>C
1g.243426501A>GCA345667807SDCCAG8c.1928A>G (p.Glu643Gly)
c.1031A>G (p.Glu344Gly)
n.135A>G
c.1799A>G (p.Glu600Gly)
c.1505A>G (p.Glu502Gly)
c.1025A>G (p.Glu342Gly)
c.1007A>G (p.Glu336Gly)
c.1958A>G (p.Glu653Gly)
c.1829A>G (p.Glu610Gly)
c.1769A>G (p.Glu590Gly)
c.2054A>G (p.Glu685Gly)
c.2024A>G (p.Glu675Gly)
c.1865A>G (p.Glu622Gly)
c.1817A>G (p.Glu606Gly)
c.1640A>G (p.Glu547Gly)
c.1592A>G (p.Glu531Gly)
c.983A>G (p.Glu328Gly)
n.2078A>G
c.1634A>G (p.Glu545Gly)
c.1691A>G (p.Glu564Gly)
c.1730A>G (p.Glu577Gly)
c.1397A>G (p.Glu466Gly)
n.1970A>G
n.1861A>G
1g.243426501A>TCA345667808SDCCAG8c.1928A>T (p.Glu643Val)
c.1031A>T (p.Glu344Val)
n.135A>T
c.1799A>T (p.Glu600Val)
c.1505A>T (p.Glu502Val)
c.1025A>T (p.Glu342Val)
c.1007A>T (p.Glu336Val)
c.1958A>T (p.Glu653Val)
c.1829A>T (p.Glu610Val)
c.1769A>T (p.Glu590Val)
c.2054A>T (p.Glu685Val)
c.2024A>T (p.Glu675Val)
c.1865A>T (p.Glu622Val)
c.1817A>T (p.Glu606Val)
c.1640A>T (p.Glu547Val)
c.1592A>T (p.Glu531Val)
c.983A>T (p.Glu328Val)
n.2078A>T
c.1634A>T (p.Glu545Val)
c.1691A>T (p.Glu564Val)
c.1730A>T (p.Glu577Val)
c.1397A>T (p.Glu466Val)
n.1970A>T
n.1861A>T
1g.243426502A>CCA345667809SDCCAG8c.1929A>C (p.Glu643Asp)
c.1032A>C (p.Glu344Asp)
n.136A>C
c.1800A>C (p.Glu600Asp)
c.1506A>C (p.Glu502Asp)
c.1026A>C (p.Glu342Asp)
c.1008A>C (p.Glu336Asp)
c.1959A>C (p.Glu653Asp)
c.1830A>C (p.Glu610Asp)
c.1770A>C (p.Glu590Asp)
c.2055A>C (p.Glu685Asp)
c.2025A>C (p.Glu675Asp)
c.1866A>C (p.Glu622Asp)
c.1818A>C (p.Glu606Asp)
c.1641A>C (p.Glu547Asp)
c.1593A>C (p.Glu531Asp)
c.984A>C (p.Glu328Asp)
n.2079A>C
c.1635A>C (p.Glu545Asp)
c.1692A>C (p.Glu564Asp)
c.1731A>C (p.Glu577Asp)
c.1398A>C (p.Glu466Asp)
n.1971A>C
n.1862A>C
1g.243426502A>GCA424346873SDCCAG8c.1929A>G (p.Glu643=)
c.1032A>G (p.Glu344=)
n.136A>G
c.1800A>G (p.Glu600=)
c.1506A>G (p.Glu502=)
c.1026A>G (p.Glu342=)
c.1008A>G (p.Glu336=)
c.1959A>G (p.Glu653=)
c.1830A>G (p.Glu610=)
c.1770A>G (p.Glu590=)
c.2055A>G (p.Glu685=)
c.2025A>G (p.Glu675=)
c.1866A>G (p.Glu622=)
c.1818A>G (p.Glu606=)
c.1641A>G (p.Glu547=)
c.1593A>G (p.Glu531=)
c.984A>G (p.Glu328=)
n.2079A>G
c.1635A>G (p.Glu545=)
c.1692A>G (p.Glu564=)
c.1731A>G (p.Glu577=)
c.1398A>G (p.Glu466=)
n.1971A>G
n.1862A>G
1g.243426502A>TCA345667810SDCCAG8c.1929A>T (p.Glu643Asp)
c.1032A>T (p.Glu344Asp)
n.136A>T
c.1800A>T (p.Glu600Asp)
c.1506A>T (p.Glu502Asp)
c.1026A>T (p.Glu342Asp)
c.1008A>T (p.Glu336Asp)
c.1959A>T (p.Glu653Asp)
c.1830A>T (p.Glu610Asp)
c.1770A>T (p.Glu590Asp)
c.2055A>T (p.Glu685Asp)
c.2025A>T (p.Glu675Asp)
c.1866A>T (p.Glu622Asp)
c.1818A>T (p.Glu606Asp)
c.1641A>T (p.Glu547Asp)
c.1593A>T (p.Glu531Asp)
c.984A>T (p.Glu328Asp)
n.2079A>T
c.1635A>T (p.Glu545Asp)
c.1692A>T (p.Glu564Asp)
c.1731A>T (p.Glu577Asp)
c.1398A>T (p.Glu466Asp)
n.1971A>T
n.1862A>T
1g.243426503G>ACA345667813SDCCAG8c.1930G>A (p.Glu644Lys)
c.1033G>A (p.Glu345Lys)
n.137G>A
c.1801G>A (p.Glu601Lys)
c.1507G>A (p.Glu503Lys)
c.1027G>A (p.Glu343Lys)
c.1009G>A (p.Glu337Lys)
c.1960G>A (p.Glu654Lys)
c.1831G>A (p.Glu611Lys)
c.1771G>A (p.Glu591Lys)
c.2056G>A (p.Glu686Lys)
c.2026G>A (p.Glu676Lys)
c.1867G>A (p.Glu623Lys)
c.1819G>A (p.Glu607Lys)
c.1642G>A (p.Glu548Lys)
c.1594G>A (p.Glu532Lys)
c.985G>A (p.Glu329Lys)
n.2080G>A
c.1636G>A (p.Glu546Lys)
c.1693G>A (p.Glu565Lys)
c.1732G>A (p.Glu578Lys)
c.1399G>A (p.Glu467Lys)
n.1972G>A
n.1863G>A
1g.243426503G>CCA345667811SDCCAG8c.1930G>C (p.Glu644Gln)
c.1033G>C (p.Glu345Gln)
n.137G>C
c.1801G>C (p.Glu601Gln)
c.1507G>C (p.Glu503Gln)
c.1027G>C (p.Glu343Gln)
c.1009G>C (p.Glu337Gln)
c.1960G>C (p.Glu654Gln)
c.1831G>C (p.Glu611Gln)
c.1771G>C (p.Glu591Gln)
c.2056G>C (p.Glu686Gln)
c.2026G>C (p.Glu676Gln)
c.1867G>C (p.Glu623Gln)
c.1819G>C (p.Glu607Gln)
c.1642G>C (p.Glu548Gln)
c.1594G>C (p.Glu532Gln)
c.985G>C (p.Glu329Gln)
n.2080G>C
c.1636G>C (p.Glu546Gln)
c.1693G>C (p.Glu565Gln)
c.1732G>C (p.Glu578Gln)
c.1399G>C (p.Glu467Gln)
n.1972G>C
n.1863G>C
1g.243426503G>TCA345667812SDCCAG8c.1930G>T (p.Glu644Ter)
c.1033G>T (p.Glu345Ter)
n.137G>T
c.1801G>T (p.Glu601Ter)
c.1507G>T (p.Glu503Ter)
c.1027G>T (p.Glu343Ter)
c.1009G>T (p.Glu337Ter)
c.1960G>T (p.Glu654Ter)
c.1831G>T (p.Glu611Ter)
c.1771G>T (p.Glu591Ter)
c.2056G>T (p.Glu686Ter)
c.2026G>T (p.Glu676Ter)
c.1867G>T (p.Glu623Ter)
c.1819G>T (p.Glu607Ter)
c.1642G>T (p.Glu548Ter)
c.1594G>T (p.Glu532Ter)
c.985G>T (p.Glu329Ter)
n.2080G>T
c.1636G>T (p.Glu546Ter)
c.1693G>T (p.Glu565Ter)
c.1732G>T (p.Glu578Ter)
c.1399G>T (p.Glu467Ter)
n.1972G>T
n.1863G>T
1g.243426504A=CA1230390611SDCCAG8c.1931A= (p.Glu644=)
c.1034A= (p.Glu345=)
n.138A=
c.1802A= (p.Glu601=)
c.1508A= (p.Glu503=)
c.1028A= (p.Glu343=)
c.1010A= (p.Glu337=)
c.1961A= (p.Glu654=)
c.1832A= (p.Glu611=)
c.1772A= (p.Glu591=)
c.2057A= (p.Glu686=)
c.2027A= (p.Glu676=)
c.1868A= (p.Glu623=)
c.1820A= (p.Glu607=)
c.1643A= (p.Glu548=)
c.1595A= (p.Glu532=)
c.986A= (p.Glu329=)
n.2081A=
c.1637A= (p.Glu546=)
c.1694A= (p.Glu565=)
c.1733A= (p.Glu578=)
c.1400A= (p.Glu467=)
n.1973A=
n.1864A=
1g.243426504A>CCA345667814SDCCAG8c.1931A>C (p.Glu644Ala)
c.1034A>C (p.Glu345Ala)
n.138A>C
c.1802A>C (p.Glu601Ala)
c.1508A>C (p.Glu503Ala)
c.1028A>C (p.Glu343Ala)
c.1010A>C (p.Glu337Ala)
c.1961A>C (p.Glu654Ala)
c.1832A>C (p.Glu611Ala)
c.1772A>C (p.Glu591Ala)
c.2057A>C (p.Glu686Ala)
c.2027A>C (p.Glu676Ala)
c.1868A>C (p.Glu623Ala)
c.1820A>C (p.Glu607Ala)
c.1643A>C (p.Glu548Ala)
c.1595A>C (p.Glu532Ala)
c.986A>C (p.Glu329Ala)
n.2081A>C
c.1637A>C (p.Glu546Ala)
c.1694A>C (p.Glu565Ala)
c.1733A>C (p.Glu578Ala)
c.1400A>C (p.Glu467Ala)
n.1973A>C
n.1864A>C
1g.243426504A>GCA345667815SDCCAG8c.1931A>G (p.Glu644Gly)
c.1034A>G (p.Glu345Gly)
n.138A>G
c.1802A>G (p.Glu601Gly)
c.1508A>G (p.Glu503Gly)
c.1028A>G (p.Glu343Gly)
c.1010A>G (p.Glu337Gly)
c.1961A>G (p.Glu654Gly)
c.1832A>G (p.Glu611Gly)
c.1772A>G (p.Glu591Gly)
c.2057A>G (p.Glu686Gly)
c.2027A>G (p.Glu676Gly)
c.1868A>G (p.Glu623Gly)
c.1820A>G (p.Glu607Gly)
c.1643A>G (p.Glu548Gly)
c.1595A>G (p.Glu532Gly)
c.986A>G (p.Glu329Gly)
n.2081A>G
c.1637A>G (p.Glu546Gly)
c.1694A>G (p.Glu565Gly)
c.1733A>G (p.Glu578Gly)
c.1400A>G (p.Glu467Gly)
n.1973A>G
n.1864A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.243426504A>TCA345667816SDCCAG8c.1931A>T (p.Glu644Val)
c.1034A>T (p.Glu345Val)
n.138A>T
c.1802A>T (p.Glu601Val)
c.1508A>T (p.Glu503Val)
c.1028A>T (p.Glu343Val)
c.1010A>T (p.Glu337Val)
c.1961A>T (p.Glu654Val)
c.1832A>T (p.Glu611Val)
c.1772A>T (p.Glu591Val)
c.2057A>T (p.Glu686Val)
c.2027A>T (p.Glu676Val)
c.1868A>T (p.Glu623Val)
c.1820A>T (p.Glu607Val)
c.1643A>T (p.Glu548Val)
c.1595A>T (p.Glu532Val)
c.986A>T (p.Glu329Val)
n.2081A>T
c.1637A>T (p.Glu546Val)
c.1694A>T (p.Glu565Val)
c.1733A>T (p.Glu578Val)
c.1400A>T (p.Glu467Val)
n.1973A>T
n.1864A>T
1g.243426505A>CCA345667817SDCCAG8c.1932A>C (p.Glu644Asp)
c.1035A>C (p.Glu345Asp)
n.139A>C
c.1803A>C (p.Glu601Asp)
c.1509A>C (p.Glu503Asp)
c.1029A>C (p.Glu343Asp)
c.1011A>C (p.Glu337Asp)
c.1962A>C (p.Glu654Asp)
c.1833A>C (p.Glu611Asp)
c.1773A>C (p.Glu591Asp)
c.2058A>C (p.Glu686Asp)
c.2028A>C (p.Glu676Asp)
c.1869A>C (p.Glu623Asp)
c.1821A>C (p.Glu607Asp)
c.1644A>C (p.Glu548Asp)
c.1596A>C (p.Glu532Asp)
c.987A>C (p.Glu329Asp)
n.2082A>C
c.1638A>C (p.Glu546Asp)
c.1695A>C (p.Glu565Asp)
c.1734A>C (p.Glu578Asp)
c.1401A>C (p.Glu467Asp)
n.1974A>C
n.1865A>C
1g.243426505A>GCA424346874SDCCAG8c.1932A>G (p.Glu644=)
c.1035A>G (p.Glu345=)
n.139A>G
c.1803A>G (p.Glu601=)
c.1509A>G (p.Glu503=)
c.1029A>G (p.Glu343=)
c.1011A>G (p.Glu337=)
c.1962A>G (p.Glu654=)
c.1833A>G (p.Glu611=)
c.1773A>G (p.Glu591=)
c.2058A>G (p.Glu686=)
c.2028A>G (p.Glu676=)
c.1869A>G (p.Glu623=)
c.1821A>G (p.Glu607=)
c.1644A>G (p.Glu548=)
c.1596A>G (p.Glu532=)
c.987A>G (p.Glu329=)
n.2082A>G
c.1638A>G (p.Glu546=)
c.1695A>G (p.Glu565=)
c.1734A>G (p.Glu578=)
c.1401A>G (p.Glu467=)
n.1974A>G
n.1865A>G
1g.243426505A>TCA345667818SDCCAG8c.1932A>T (p.Glu644Asp)
c.1035A>T (p.Glu345Asp)
n.139A>T
c.1803A>T (p.Glu601Asp)
c.1509A>T (p.Glu503Asp)
c.1029A>T (p.Glu343Asp)
c.1011A>T (p.Glu337Asp)
c.1962A>T (p.Glu654Asp)
c.1833A>T (p.Glu611Asp)
c.1773A>T (p.Glu591Asp)
c.2058A>T (p.Glu686Asp)
c.2028A>T (p.Glu676Asp)
c.1869A>T (p.Glu623Asp)
c.1821A>T (p.Glu607Asp)
c.1644A>T (p.Glu548Asp)
c.1596A>T (p.Glu532Asp)
c.987A>T (p.Glu329Asp)
n.2082A>T
c.1638A>T (p.Glu546Asp)
c.1695A>T (p.Glu565Asp)
c.1734A>T (p.Glu578Asp)
c.1401A>T (p.Glu467Asp)
n.1974A>T
n.1865A>T
1g.243426506T>ACA41009609SDCCAG8c.1933T>A (p.Leu645Met)
c.1036T>A (p.Leu346Met)
n.140T>A
c.1804T>A (p.Leu602Met)
c.1510T>A (p.Leu504Met)
c.1030T>A (p.Leu344Met)
c.1012T>A (p.Leu338Met)
c.1963T>A (p.Leu655Met)
c.1834T>A (p.Leu612Met)
c.1774T>A (p.Leu592Met)
c.2059T>A (p.Leu687Met)
c.2029T>A (p.Leu677Met)
c.1870T>A (p.Leu624Met)
c.1822T>A (p.Leu608Met)
c.1645T>A (p.Leu549Met)
c.1597T>A (p.Leu533Met)
c.988T>A (p.Leu330Met)
n.2083T>A
c.1639T>A (p.Leu547Met)
c.1696T>A (p.Leu566Met)
c.1735T>A (p.Leu579Met)
c.1402T>A (p.Leu468Met)
n.1975T>A
n.1866T>A
 ClinVar dbSNP gnomAD v4
1g.243426506T>CCA424346875SDCCAG8c.1933T>C (p.Leu645=)
c.1036T>C (p.Leu346=)
n.140T>C
c.1804T>C (p.Leu602=)
c.1510T>C (p.Leu504=)
c.1030T>C (p.Leu344=)
c.1012T>C (p.Leu338=)
c.1963T>C (p.Leu655=)
c.1834T>C (p.Leu612=)
c.1774T>C (p.Leu592=)
c.2059T>C (p.Leu687=)
c.2029T>C (p.Leu677=)
c.1870T>C (p.Leu624=)
c.1822T>C (p.Leu608=)
c.1645T>C (p.Leu549=)
c.1597T>C (p.Leu533=)
c.988T>C (p.Leu330=)
n.2083T>C
c.1639T>C (p.Leu547=)
c.1696T>C (p.Leu566=)
c.1735T>C (p.Leu579=)
c.1402T>C (p.Leu468=)
n.1975T>C
n.1866T>C
1g.243426506T>GCA345667819SDCCAG8c.1933T>G (p.Leu645Val)
c.1036T>G (p.Leu346Val)
n.140T>G
c.1804T>G (p.Leu602Val)
c.1510T>G (p.Leu504Val)
c.1030T>G (p.Leu344Val)
c.1012T>G (p.Leu338Val)
c.1963T>G (p.Leu655Val)
c.1834T>G (p.Leu612Val)
c.1774T>G (p.Leu592Val)
c.2059T>G (p.Leu687Val)
c.2029T>G (p.Leu677Val)
c.1870T>G (p.Leu624Val)
c.1822T>G (p.Leu608Val)
c.1645T>G (p.Leu549Val)
c.1597T>G (p.Leu533Val)
c.988T>G (p.Leu330Val)
n.2083T>G
c.1639T>G (p.Leu547Val)
c.1696T>G (p.Leu566Val)
c.1735T>G (p.Leu579Val)
c.1402T>G (p.Leu468Val)
n.1975T>G
n.1866T>G
1g.243426506T=CA1142448067SDCCAG8c.1933T= (p.Leu645=)
c.1036T= (p.Leu346=)
n.140T=
c.1804T= (p.Leu602=)
c.1510T= (p.Leu504=)
c.1030T= (p.Leu344=)
c.1012T= (p.Leu338=)
c.1963T= (p.Leu655=)
c.1834T= (p.Leu612=)
c.1774T= (p.Leu592=)
c.2059T= (p.Leu687=)
c.2029T= (p.Leu677=)
c.1870T= (p.Leu624=)
c.1822T= (p.Leu608=)
c.1645T= (p.Leu549=)
c.1597T= (p.Leu533=)
c.988T= (p.Leu330=)
n.2083T=
c.1639T= (p.Leu547=)
c.1696T= (p.Leu566=)
c.1735T= (p.Leu579=)
c.1402T= (p.Leu468=)
n.1975T=
n.1866T=
1g.243426507T>ACA345667820SDCCAG8c.1934T>A (p.Leu645Ter)
c.1037T>A (p.Leu346Ter)
n.141T>A
c.1805T>A (p.Leu602Ter)
c.1511T>A (p.Leu504Ter)
c.1031T>A (p.Leu344Ter)
c.1013T>A (p.Leu338Ter)
c.1964T>A (p.Leu655Ter)
c.1835T>A (p.Leu612Ter)
c.1775T>A (p.Leu592Ter)
c.2060T>A (p.Leu687Ter)
c.2030T>A (p.Leu677Ter)
c.1871T>A (p.Leu624Ter)
c.1823T>A (p.Leu608Ter)
c.1646T>A (p.Leu549Ter)
c.1598T>A (p.Leu533Ter)
c.989T>A (p.Leu330Ter)
n.2084T>A
c.1640T>A (p.Leu547Ter)
c.1697T>A (p.Leu566Ter)
c.1736T>A (p.Leu579Ter)
c.1403T>A (p.Leu468Ter)
n.1976T>A
n.1867T>A
1g.243426507T>CCA345667821SDCCAG8c.1934T>C (p.Leu645Ser)
c.1037T>C (p.Leu346Ser)
n.141T>C
c.1805T>C (p.Leu602Ser)
c.1511T>C (p.Leu504Ser)
c.1031T>C (p.Leu344Ser)
c.1013T>C (p.Leu338Ser)
c.1964T>C (p.Leu655Ser)
c.1835T>C (p.Leu612Ser)
c.1775T>C (p.Leu592Ser)
c.2060T>C (p.Leu687Ser)
c.2030T>C (p.Leu677Ser)
c.1871T>C (p.Leu624Ser)
c.1823T>C (p.Leu608Ser)
c.1646T>C (p.Leu549Ser)
c.1598T>C (p.Leu533Ser)
c.989T>C (p.Leu330Ser)
n.2084T>C
c.1640T>C (p.Leu547Ser)
c.1697T>C (p.Leu566Ser)
c.1736T>C (p.Leu579Ser)
c.1403T>C (p.Leu468Ser)
n.1976T>C
n.1867T>C
1g.243426507T>GCA345667822SDCCAG8c.1934T>G (p.Leu645Trp)
c.1037T>G (p.Leu346Trp)
n.141T>G
c.1805T>G (p.Leu602Trp)
c.1511T>G (p.Leu504Trp)
c.1031T>G (p.Leu344Trp)
c.1013T>G (p.Leu338Trp)
c.1964T>G (p.Leu655Trp)
c.1835T>G (p.Leu612Trp)
c.1775T>G (p.Leu592Trp)
c.2060T>G (p.Leu687Trp)
c.2030T>G (p.Leu677Trp)
c.1871T>G (p.Leu624Trp)
c.1823T>G (p.Leu608Trp)
c.1646T>G (p.Leu549Trp)
c.1598T>G (p.Leu533Trp)
c.989T>G (p.Leu330Trp)
n.2084T>G
c.1640T>G (p.Leu547Trp)
c.1697T>G (p.Leu566Trp)
c.1736T>G (p.Leu579Trp)
c.1403T>G (p.Leu468Trp)
n.1976T>G
n.1867T>G
1g.243426508G>ACA1483778SDCCAG8c.1935G>A (p.Leu645=)
c.1038G>A (p.Leu346=)
n.142G>A
c.1806G>A (p.Leu602=)
c.1512G>A (p.Leu504=)
c.1032G>A (p.Leu344=)
c.1014G>A (p.Leu338=)
c.1965G>A (p.Leu655=)
c.1836G>A (p.Leu612=)
c.1776G>A (p.Leu592=)
c.2061G>A (p.Leu687=)
c.2031G>A (p.Leu677=)
c.1872G>A (p.Leu624=)
c.1824G>A (p.Leu608=)
c.1647G>A (p.Leu549=)
c.1599G>A (p.Leu533=)
c.990G>A (p.Leu330=)
n.2085G>A
c.1641G>A (p.Leu547=)
c.1698G>A (p.Leu566=)
c.1737G>A (p.Leu579=)
c.1404G>A (p.Leu468=)
n.1977G>A
n.1868G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426508G>CCA1483779SDCCAG8c.1935G>C (p.Leu645Phe)
c.1038G>C (p.Leu346Phe)
n.142G>C
c.1806G>C (p.Leu602Phe)
c.1512G>C (p.Leu504Phe)
c.1032G>C (p.Leu344Phe)
c.1014G>C (p.Leu338Phe)
c.1965G>C (p.Leu655Phe)
c.1836G>C (p.Leu612Phe)
c.1776G>C (p.Leu592Phe)
c.2061G>C (p.Leu687Phe)
c.2031G>C (p.Leu677Phe)
c.1872G>C (p.Leu624Phe)
c.1824G>C (p.Leu608Phe)
c.1647G>C (p.Leu549Phe)
c.1599G>C (p.Leu533Phe)
c.990G>C (p.Leu330Phe)
n.2085G>C
c.1641G>C (p.Leu547Phe)
c.1698G>C (p.Leu566Phe)
c.1737G>C (p.Leu579Phe)
c.1404G>C (p.Leu468Phe)
n.1977G>C
n.1868G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426508G=CA1142810849SDCCAG8c.1935G= (p.Leu645=)
c.1038G= (p.Leu346=)
n.142G=
c.1806G= (p.Leu602=)
c.1512G= (p.Leu504=)
c.1032G= (p.Leu344=)
c.1014G= (p.Leu338=)
c.1965G= (p.Leu655=)
c.1836G= (p.Leu612=)
c.1776G= (p.Leu592=)
c.2061G= (p.Leu687=)
c.2031G= (p.Leu677=)
c.1872G= (p.Leu624=)
c.1824G= (p.Leu608=)
c.1647G= (p.Leu549=)
c.1599G= (p.Leu533=)
c.990G= (p.Leu330=)
n.2085G=
c.1641G= (p.Leu547=)
c.1698G= (p.Leu566=)
c.1737G= (p.Leu579=)
c.1404G= (p.Leu468=)
n.1977G=
n.1868G=
1g.243426508G>TCA345667823SDCCAG8c.1935G>T (p.Leu645Phe)
c.1038G>T (p.Leu346Phe)
n.142G>T
c.1806G>T (p.Leu602Phe)
c.1512G>T (p.Leu504Phe)
c.1032G>T (p.Leu344Phe)
c.1014G>T (p.Leu338Phe)
c.1965G>T (p.Leu655Phe)
c.1836G>T (p.Leu612Phe)
c.1776G>T (p.Leu592Phe)
c.2061G>T (p.Leu687Phe)
c.2031G>T (p.Leu677Phe)
c.1872G>T (p.Leu624Phe)
c.1824G>T (p.Leu608Phe)
c.1647G>T (p.Leu549Phe)
c.1599G>T (p.Leu533Phe)
c.990G>T (p.Leu330Phe)
n.2085G>T
c.1641G>T (p.Leu547Phe)
c.1698G>T (p.Leu566Phe)
c.1737G>T (p.Leu579Phe)
c.1404G>T (p.Leu468Phe)
n.1977G>T
n.1868G>T
1g.243426509G>ACA41009610SDCCAG8c.1936G>A (p.Glu646Lys)
c.1039G>A (p.Glu347Lys)
n.143G>A
c.1807G>A (p.Glu603Lys)
c.1513G>A (p.Glu505Lys)
c.1033G>A (p.Glu345Lys)
c.1015G>A (p.Glu339Lys)
c.1966G>A (p.Glu656Lys)
c.1837G>A (p.Glu613Lys)
c.1777G>A (p.Glu593Lys)
c.2062G>A (p.Glu688Lys)
c.2032G>A (p.Glu678Lys)
c.1873G>A (p.Glu625Lys)
c.1825G>A (p.Glu609Lys)
c.1648G>A (p.Glu550Lys)
c.1600G>A (p.Glu534Lys)
c.991G>A (p.Glu331Lys)
n.2086G>A
c.1642G>A (p.Glu548Lys)
c.1699G>A (p.Glu567Lys)
c.1738G>A (p.Glu580Lys)
c.1405G>A (p.Glu469Lys)
n.1978G>A
n.1869G>A
 dbSNP
1g.243426509G>CCA345667825SDCCAG8c.1936G>C (p.Glu646Gln)
c.1039G>C (p.Glu347Gln)
n.143G>C
c.1807G>C (p.Glu603Gln)
c.1513G>C (p.Glu505Gln)
c.1033G>C (p.Glu345Gln)
c.1015G>C (p.Glu339Gln)
c.1966G>C (p.Glu656Gln)
c.1837G>C (p.Glu613Gln)
c.1777G>C (p.Glu593Gln)
c.2062G>C (p.Glu688Gln)
c.2032G>C (p.Glu678Gln)
c.1873G>C (p.Glu625Gln)
c.1825G>C (p.Glu609Gln)
c.1648G>C (p.Glu550Gln)
c.1600G>C (p.Glu534Gln)
c.991G>C (p.Glu331Gln)
n.2086G>C
c.1642G>C (p.Glu548Gln)
c.1699G>C (p.Glu567Gln)
c.1738G>C (p.Glu580Gln)
c.1405G>C (p.Glu469Gln)
n.1978G>C
n.1869G>C
1g.243426509G=CA1230390612SDCCAG8c.1936G= (p.Glu646=)
c.1039G= (p.Glu347=)
n.143G=
c.1807G= (p.Glu603=)
c.1513G= (p.Glu505=)
c.1033G= (p.Glu345=)
c.1015G= (p.Glu339=)
c.1966G= (p.Glu656=)
c.1837G= (p.Glu613=)
c.1777G= (p.Glu593=)
c.2062G= (p.Glu688=)
c.2032G= (p.Glu678=)
c.1873G= (p.Glu625=)
c.1825G= (p.Glu609=)
c.1648G= (p.Glu550=)
c.1600G= (p.Glu534=)
c.991G= (p.Glu331=)
n.2086G=
c.1642G= (p.Glu548=)
c.1699G= (p.Glu567=)
c.1738G= (p.Glu580=)
c.1405G= (p.Glu469=)
n.1978G=
n.1869G=
1g.243426509G>TCA345667824SDCCAG8c.1936G>T (p.Glu646Ter)
c.1039G>T (p.Glu347Ter)
n.143G>T
c.1807G>T (p.Glu603Ter)
c.1513G>T (p.Glu505Ter)
c.1033G>T (p.Glu345Ter)
c.1015G>T (p.Glu339Ter)
c.1966G>T (p.Glu656Ter)
c.1837G>T (p.Glu613Ter)
c.1777G>T (p.Glu593Ter)
c.2062G>T (p.Glu688Ter)
c.2032G>T (p.Glu678Ter)
c.1873G>T (p.Glu625Ter)
c.1825G>T (p.Glu609Ter)
c.1648G>T (p.Glu550Ter)
c.1600G>T (p.Glu534Ter)
c.991G>T (p.Glu331Ter)
n.2086G>T
c.1642G>T (p.Glu548Ter)
c.1699G>T (p.Glu567Ter)
c.1738G>T (p.Glu580Ter)
c.1405G>T (p.Glu469Ter)
n.1978G>T
n.1869G>T
1g.243426510A>CCA345667826SDCCAG8c.1937A>C (p.Glu646Ala)
c.1040A>C (p.Glu347Ala)
n.144A>C
c.1808A>C (p.Glu603Ala)
c.1514A>C (p.Glu505Ala)
c.1034A>C (p.Glu345Ala)
c.1016A>C (p.Glu339Ala)
c.1967A>C (p.Glu656Ala)
c.1838A>C (p.Glu613Ala)
c.1778A>C (p.Glu593Ala)
c.2063A>C (p.Glu688Ala)
c.2033A>C (p.Glu678Ala)
c.1874A>C (p.Glu625Ala)
c.1826A>C (p.Glu609Ala)
c.1649A>C (p.Glu550Ala)
c.1601A>C (p.Glu534Ala)
c.992A>C (p.Glu331Ala)
n.2087A>C
c.1643A>C (p.Glu548Ala)
c.1700A>C (p.Glu567Ala)
c.1739A>C (p.Glu580Ala)
c.1406A>C (p.Glu469Ala)
n.1979A>C
n.1870A>C
1g.243426510A>GCA345667827SDCCAG8c.1937A>G (p.Glu646Gly)
c.1040A>G (p.Glu347Gly)
n.144A>G
c.1808A>G (p.Glu603Gly)
c.1514A>G (p.Glu505Gly)
c.1034A>G (p.Glu345Gly)
c.1016A>G (p.Glu339Gly)
c.1967A>G (p.Glu656Gly)
c.1838A>G (p.Glu613Gly)
c.1778A>G (p.Glu593Gly)
c.2063A>G (p.Glu688Gly)
c.2033A>G (p.Glu678Gly)
c.1874A>G (p.Glu625Gly)
c.1826A>G (p.Glu609Gly)
c.1649A>G (p.Glu550Gly)
c.1601A>G (p.Glu534Gly)
c.992A>G (p.Glu331Gly)
n.2087A>G
c.1643A>G (p.Glu548Gly)
c.1700A>G (p.Glu567Gly)
c.1739A>G (p.Glu580Gly)
c.1406A>G (p.Glu469Gly)
n.1979A>G
n.1870A>G
1g.243426510A>TCA345667828SDCCAG8c.1937A>T (p.Glu646Val)
c.1040A>T (p.Glu347Val)
n.144A>T
c.1808A>T (p.Glu603Val)
c.1514A>T (p.Glu505Val)
c.1034A>T (p.Glu345Val)
c.1016A>T (p.Glu339Val)
c.1967A>T (p.Glu656Val)
c.1838A>T (p.Glu613Val)
c.1778A>T (p.Glu593Val)
c.2063A>T (p.Glu688Val)
c.2033A>T (p.Glu678Val)
c.1874A>T (p.Glu625Val)
c.1826A>T (p.Glu609Val)
c.1649A>T (p.Glu550Val)
c.1601A>T (p.Glu534Val)
c.992A>T (p.Glu331Val)
n.2087A>T
c.1643A>T (p.Glu548Val)
c.1700A>T (p.Glu567Val)
c.1739A>T (p.Glu580Val)
c.1406A>T (p.Glu469Val)
n.1979A>T
n.1870A>T
1g.243426511G>ACA424346877SDCCAG8c.1938G>A (p.Glu646=)
c.1041G>A (p.Glu347=)
n.145G>A
c.1809G>A (p.Glu603=)
c.1515G>A (p.Glu505=)
c.1035G>A (p.Glu345=)
c.1017G>A (p.Glu339=)
c.1968G>A (p.Glu656=)
c.1839G>A (p.Glu613=)
c.1779G>A (p.Glu593=)
c.2064G>A (p.Glu688=)
c.2034G>A (p.Glu678=)
c.1875G>A (p.Glu625=)
c.1827G>A (p.Glu609=)
c.1650G>A (p.Glu550=)
c.1602G>A (p.Glu534=)
c.993G>A (p.Glu331=)
n.2088G>A
c.1644G>A (p.Glu548=)
c.1701G>A (p.Glu567=)
c.1740G>A (p.Glu580=)
c.1407G>A (p.Glu469=)
n.1980G>A
n.1871G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.243426511G>CCA345667829SDCCAG8c.1938G>C (p.Glu646Asp)
c.1041G>C (p.Glu347Asp)
n.145G>C
c.1809G>C (p.Glu603Asp)
c.1515G>C (p.Glu505Asp)
c.1035G>C (p.Glu345Asp)
c.1017G>C (p.Glu339Asp)
c.1968G>C (p.Glu656Asp)
c.1839G>C (p.Glu613Asp)
c.1779G>C (p.Glu593Asp)
c.2064G>C (p.Glu688Asp)
c.2034G>C (p.Glu678Asp)
c.1875G>C (p.Glu625Asp)
c.1827G>C (p.Glu609Asp)
c.1650G>C (p.Glu550Asp)
c.1602G>C (p.Glu534Asp)
c.993G>C (p.Glu331Asp)
n.2088G>C
c.1644G>C (p.Glu548Asp)
c.1701G>C (p.Glu567Asp)
c.1740G>C (p.Glu580Asp)
c.1407G>C (p.Glu469Asp)
n.1980G>C
n.1871G>C
1g.243426511G=CA1230390613SDCCAG8c.1938G= (p.Glu646=)
c.1041G= (p.Glu347=)
n.145G=
c.1809G= (p.Glu603=)
c.1515G= (p.Glu505=)
c.1035G= (p.Glu345=)
c.1017G= (p.Glu339=)
c.1968G= (p.Glu656=)
c.1839G= (p.Glu613=)
c.1779G= (p.Glu593=)
c.2064G= (p.Glu688=)
c.2034G= (p.Glu678=)
c.1875G= (p.Glu625=)
c.1827G= (p.Glu609=)
c.1650G= (p.Glu550=)
c.1602G= (p.Glu534=)
c.993G= (p.Glu331=)
n.2088G=
c.1644G= (p.Glu548=)
c.1701G= (p.Glu567=)
c.1740G= (p.Glu580=)
c.1407G= (p.Glu469=)
n.1980G=
n.1871G=
1g.243426511G>TCA345667830SDCCAG8c.1938G>T (p.Glu646Asp)
c.1041G>T (p.Glu347Asp)
n.145G>T
c.1809G>T (p.Glu603Asp)
c.1515G>T (p.Glu505Asp)
c.1035G>T (p.Glu345Asp)
c.1017G>T (p.Glu339Asp)
c.1968G>T (p.Glu656Asp)
c.1839G>T (p.Glu613Asp)
c.1779G>T (p.Glu593Asp)
c.2064G>T (p.Glu688Asp)
c.2034G>T (p.Glu678Asp)
c.1875G>T (p.Glu625Asp)
c.1827G>T (p.Glu609Asp)
c.1650G>T (p.Glu550Asp)
c.1602G>T (p.Glu534Asp)
c.993G>T (p.Glu331Asp)
n.2088G>T
c.1644G>T (p.Glu548Asp)
c.1701G>T (p.Glu567Asp)
c.1740G>T (p.Glu580Asp)
c.1407G>T (p.Glu469Asp)
n.1980G>T
n.1871G>T
1g.243426512G>ACA345667831SDCCAG8c.1939G>A (p.Glu647Lys)
c.1042G>A (p.Glu348Lys)
n.146G>A
c.1810G>A (p.Glu604Lys)
c.1516G>A (p.Glu506Lys)
c.1036G>A (p.Glu346Lys)
c.1018G>A (p.Glu340Lys)
c.1969G>A (p.Glu657Lys)
c.1840G>A (p.Glu614Lys)
c.1780G>A (p.Glu594Lys)
c.2065G>A (p.Glu689Lys)
c.2035G>A (p.Glu679Lys)
c.1876G>A (p.Glu626Lys)
c.1828G>A (p.Glu610Lys)
c.1651G>A (p.Glu551Lys)
c.1603G>A (p.Glu535Lys)
c.994G>A (p.Glu332Lys)
n.2089G>A
c.1645G>A (p.Glu549Lys)
c.1702G>A (p.Glu568Lys)
c.1741G>A (p.Glu581Lys)
c.1408G>A (p.Glu470Lys)
n.1981G>A
n.1872G>A
 dbSNP gnomAD v2 gnomAD v4
1g.243426512G>CCA345667832SDCCAG8c.1939G>C (p.Glu647Gln)
c.1042G>C (p.Glu348Gln)
n.146G>C
c.1810G>C (p.Glu604Gln)
c.1516G>C (p.Glu506Gln)
c.1036G>C (p.Glu346Gln)
c.1018G>C (p.Glu340Gln)
c.1969G>C (p.Glu657Gln)
c.1840G>C (p.Glu614Gln)
c.1780G>C (p.Glu594Gln)
c.2065G>C (p.Glu689Gln)
c.2035G>C (p.Glu679Gln)
c.1876G>C (p.Glu626Gln)
c.1828G>C (p.Glu610Gln)
c.1651G>C (p.Glu551Gln)
c.1603G>C (p.Glu535Gln)
c.994G>C (p.Glu332Gln)
n.2089G>C
c.1645G>C (p.Glu549Gln)
c.1702G>C (p.Glu568Gln)
c.1741G>C (p.Glu581Gln)
c.1408G>C (p.Glu470Gln)
n.1981G>C
n.1872G>C
1g.243426512G=CA1230390614SDCCAG8c.1939G= (p.Glu647=)
c.1042G= (p.Glu348=)
n.146G=
c.1810G= (p.Glu604=)
c.1516G= (p.Glu506=)
c.1036G= (p.Glu346=)
c.1018G= (p.Glu340=)
c.1969G= (p.Glu657=)
c.1840G= (p.Glu614=)
c.1780G= (p.Glu594=)
c.2065G= (p.Glu689=)
c.2035G= (p.Glu679=)
c.1876G= (p.Glu626=)
c.1828G= (p.Glu610=)
c.1651G= (p.Glu551=)
c.1603G= (p.Glu535=)
c.994G= (p.Glu332=)
n.2089G=
c.1645G= (p.Glu549=)
c.1702G= (p.Glu568=)
c.1741G= (p.Glu581=)
c.1408G= (p.Glu470=)
n.1981G=
n.1872G=
1g.243426512G>TCA345667833SDCCAG8c.1939G>T (p.Glu647Ter)
c.1042G>T (p.Glu348Ter)
n.146G>T
c.1810G>T (p.Glu604Ter)
c.1516G>T (p.Glu506Ter)
c.1036G>T (p.Glu346Ter)
c.1018G>T (p.Glu340Ter)
c.1969G>T (p.Glu657Ter)
c.1840G>T (p.Glu614Ter)
c.1780G>T (p.Glu594Ter)
c.2065G>T (p.Glu689Ter)
c.2035G>T (p.Glu679Ter)
c.1876G>T (p.Glu626Ter)
c.1828G>T (p.Glu610Ter)
c.1651G>T (p.Glu551Ter)
c.1603G>T (p.Glu535Ter)
c.994G>T (p.Glu332Ter)
n.2089G>T
c.1645G>T (p.Glu549Ter)
c.1702G>T (p.Glu568Ter)
c.1741G>T (p.Glu581Ter)
c.1408G>T (p.Glu470Ter)
n.1981G>T
n.1872G>T
1g.243426513A=CA1230390615SDCCAG8c.1940A= (p.Glu647=)
c.1043A= (p.Glu348=)
n.147A=
c.1811A= (p.Glu604=)
c.1517A= (p.Glu506=)
c.1037A= (p.Glu346=)
c.1019A= (p.Glu340=)
c.1970A= (p.Glu657=)
c.1841A= (p.Glu614=)
c.1781A= (p.Glu594=)
c.2066A= (p.Glu689=)
c.2036A= (p.Glu679=)
c.1877A= (p.Glu626=)
c.1829A= (p.Glu610=)
c.1652A= (p.Glu551=)
c.1604A= (p.Glu535=)
c.995A= (p.Glu332=)
n.2090A=
c.1646A= (p.Glu549=)
c.1703A= (p.Glu568=)
c.1742A= (p.Glu581=)
c.1409A= (p.Glu470=)
n.1982A=
n.1873A=
1g.243426513A>CCA345667834SDCCAG8c.1940A>C (p.Glu647Ala)
c.1043A>C (p.Glu348Ala)
n.147A>C
c.1811A>C (p.Glu604Ala)
c.1517A>C (p.Glu506Ala)
c.1037A>C (p.Glu346Ala)
c.1019A>C (p.Glu340Ala)
c.1970A>C (p.Glu657Ala)
c.1841A>C (p.Glu614Ala)
c.1781A>C (p.Glu594Ala)
c.2066A>C (p.Glu689Ala)
c.2036A>C (p.Glu679Ala)
c.1877A>C (p.Glu626Ala)
c.1829A>C (p.Glu610Ala)
c.1652A>C (p.Glu551Ala)
c.1604A>C (p.Glu535Ala)
c.995A>C (p.Glu332Ala)
n.2090A>C
c.1646A>C (p.Glu549Ala)
c.1703A>C (p.Glu568Ala)
c.1742A>C (p.Glu581Ala)
c.1409A>C (p.Glu470Ala)
n.1982A>C
n.1873A>C
1g.243426513A>GCA345667835SDCCAG8c.1940A>G (p.Glu647Gly)
c.1043A>G (p.Glu348Gly)
n.147A>G
c.1811A>G (p.Glu604Gly)
c.1517A>G (p.Glu506Gly)
c.1037A>G (p.Glu346Gly)
c.1019A>G (p.Glu340Gly)
c.1970A>G (p.Glu657Gly)
c.1841A>G (p.Glu614Gly)
c.1781A>G (p.Glu594Gly)
c.2066A>G (p.Glu689Gly)
c.2036A>G (p.Glu679Gly)
c.1877A>G (p.Glu626Gly)
c.1829A>G (p.Glu610Gly)
c.1652A>G (p.Glu551Gly)
c.1604A>G (p.Glu535Gly)
c.995A>G (p.Glu332Gly)
n.2090A>G
c.1646A>G (p.Glu549Gly)
c.1703A>G (p.Glu568Gly)
c.1742A>G (p.Glu581Gly)
c.1409A>G (p.Glu470Gly)
n.1982A>G
n.1873A>G
1g.243426513A>TCA345667836SDCCAG8c.1940A>T (p.Glu647Val)
c.1043A>T (p.Glu348Val)
n.147A>T
c.1811A>T (p.Glu604Val)
c.1517A>T (p.Glu506Val)
c.1037A>T (p.Glu346Val)
c.1019A>T (p.Glu340Val)
c.1970A>T (p.Glu657Val)
c.1841A>T (p.Glu614Val)
c.1781A>T (p.Glu594Val)
c.2066A>T (p.Glu689Val)
c.2036A>T (p.Glu679Val)
c.1877A>T (p.Glu626Val)
c.1829A>T (p.Glu610Val)
c.1652A>T (p.Glu551Val)
c.1604A>T (p.Glu535Val)
c.995A>T (p.Glu332Val)
n.2090A>T
c.1646A>T (p.Glu549Val)
c.1703A>T (p.Glu568Val)
c.1742A>T (p.Glu581Val)
c.1409A>T (p.Glu470Val)
n.1982A>T
n.1873A>T
 dbSNP gnomAD v2 gnomAD v4
1g.243426514A>CCA345667837SDCCAG8c.1941A>C (p.Glu647Asp)
c.1044A>C (p.Glu348Asp)
n.148A>C
c.1812A>C (p.Glu604Asp)
c.1518A>C (p.Glu506Asp)
c.1038A>C (p.Glu346Asp)
c.1020A>C (p.Glu340Asp)
c.1971A>C (p.Glu657Asp)
c.1842A>C (p.Glu614Asp)
c.1782A>C (p.Glu594Asp)
c.2067A>C (p.Glu689Asp)
c.2037A>C (p.Glu679Asp)
c.1878A>C (p.Glu626Asp)
c.1830A>C (p.Glu610Asp)
c.1653A>C (p.Glu551Asp)
c.1605A>C (p.Glu535Asp)
c.996A>C (p.Glu332Asp)
n.2091A>C
c.1647A>C (p.Glu549Asp)
c.1704A>C (p.Glu568Asp)
c.1743A>C (p.Glu581Asp)
c.1410A>C (p.Glu470Asp)
n.1983A>C
n.1874A>C
1g.243426514A>GCA424346878SDCCAG8c.1941A>G (p.Glu647=)
c.1044A>G (p.Glu348=)
n.148A>G
c.1812A>G (p.Glu604=)
c.1518A>G (p.Glu506=)
c.1038A>G (p.Glu346=)
c.1020A>G (p.Glu340=)
c.1971A>G (p.Glu657=)
c.1842A>G (p.Glu614=)
c.1782A>G (p.Glu594=)
c.2067A>G (p.Glu689=)
c.2037A>G (p.Glu679=)
c.1878A>G (p.Glu626=)
c.1830A>G (p.Glu610=)
c.1653A>G (p.Glu551=)
c.1605A>G (p.Glu535=)
c.996A>G (p.Glu332=)
n.2091A>G
c.1647A>G (p.Glu549=)
c.1704A>G (p.Glu568=)
c.1743A>G (p.Glu581=)
c.1410A>G (p.Glu470=)
n.1983A>G
n.1874A>G
 dbSNP
1g.243426514A>TCA345667838SDCCAG8c.1941A>T (p.Glu647Asp)
c.1044A>T (p.Glu348Asp)
n.148A>T
c.1812A>T (p.Glu604Asp)
c.1518A>T (p.Glu506Asp)
c.1038A>T (p.Glu346Asp)
c.1020A>T (p.Glu340Asp)
c.1971A>T (p.Glu657Asp)
c.1842A>T (p.Glu614Asp)
c.1782A>T (p.Glu594Asp)
c.2067A>T (p.Glu689Asp)
c.2037A>T (p.Glu679Asp)
c.1878A>T (p.Glu626Asp)
c.1830A>T (p.Glu610Asp)
c.1653A>T (p.Glu551Asp)
c.1605A>T (p.Glu535Asp)
c.996A>T (p.Glu332Asp)
n.2091A>T
c.1647A>T (p.Glu549Asp)
c.1704A>T (p.Glu568Asp)
c.1743A>T (p.Glu581Asp)
c.1410A>T (p.Glu470Asp)
n.1983A>T
n.1874A>T
 gnomAD v4
1g.243426515C>ACA345667839SDCCAG8c.1942C>A (p.Gln648Lys)
c.1045C>A (p.Gln349Lys)
n.149C>A
c.1813C>A (p.Gln605Lys)
c.1519C>A (p.Gln507Lys)
c.1039C>A (p.Gln347Lys)
c.1021C>A (p.Gln341Lys)
c.1972C>A (p.Gln658Lys)
c.1843C>A (p.Gln615Lys)
c.1783C>A (p.Gln595Lys)
c.2068C>A (p.Gln690Lys)
c.2038C>A (p.Gln680Lys)
c.1879C>A (p.Gln627Lys)
c.1831C>A (p.Gln611Lys)
c.1654C>A (p.Gln552Lys)
c.1606C>A (p.Gln536Lys)
c.997C>A (p.Gln333Lys)
n.2092C>A
c.1648C>A (p.Gln550Lys)
c.1705C>A (p.Gln569Lys)
c.1744C>A (p.Gln582Lys)
c.1411C>A (p.Gln471Lys)
n.1984C>A
n.1875C>A
1g.243426515C=CA1143540418SDCCAG8c.1942C= (p.Gln648=)
c.1045C= (p.Gln349=)
n.149C=
c.1813C= (p.Gln605=)
c.1519C= (p.Gln507=)
c.1039C= (p.Gln347=)
c.1021C= (p.Gln341=)
c.1972C= (p.Gln658=)
c.1843C= (p.Gln615=)
c.1783C= (p.Gln595=)
c.2068C= (p.Gln690=)
c.2038C= (p.Gln680=)
c.1879C= (p.Gln627=)
c.1831C= (p.Gln611=)
c.1654C= (p.Gln552=)
c.1606C= (p.Gln536=)
c.997C= (p.Gln333=)
n.2092C=
c.1648C= (p.Gln550=)
c.1705C= (p.Gln569=)
c.1744C= (p.Gln582=)
c.1411C= (p.Gln471=)
n.1984C=
n.1875C=
1g.243426515C>GCA345667840SDCCAG8c.1942C>G (p.Gln648Glu)
c.1045C>G (p.Gln349Glu)
n.149C>G
c.1813C>G (p.Gln605Glu)
c.1519C>G (p.Gln507Glu)
c.1039C>G (p.Gln347Glu)
c.1021C>G (p.Gln341Glu)
c.1972C>G (p.Gln658Glu)
c.1843C>G (p.Gln615Glu)
c.1783C>G (p.Gln595Glu)
c.2068C>G (p.Gln690Glu)
c.2038C>G (p.Gln680Glu)
c.1879C>G (p.Gln627Glu)
c.1831C>G (p.Gln611Glu)
c.1654C>G (p.Gln552Glu)
c.1606C>G (p.Gln536Glu)
c.997C>G (p.Gln333Glu)
n.2092C>G
c.1648C>G (p.Gln550Glu)
c.1705C>G (p.Gln569Glu)
c.1744C>G (p.Gln582Glu)
c.1411C>G (p.Gln471Glu)
n.1984C>G
n.1875C>G
1g.243426515C>TCA1483780SDCCAG8c.1942C>T (p.Gln648Ter)
c.1045C>T (p.Gln349Ter)
n.149C>T
c.1813C>T (p.Gln605Ter)
c.1519C>T (p.Gln507Ter)
c.1039C>T (p.Gln347Ter)
c.1021C>T (p.Gln341Ter)
c.1972C>T (p.Gln658Ter)
c.1843C>T (p.Gln615Ter)
c.1783C>T (p.Gln595Ter)
c.2068C>T (p.Gln690Ter)
c.2038C>T (p.Gln680Ter)
c.1879C>T (p.Gln627Ter)
c.1831C>T (p.Gln611Ter)
c.1654C>T (p.Gln552Ter)
c.1606C>T (p.Gln536Ter)
c.997C>T (p.Gln333Ter)
n.2092C>T
c.1648C>T (p.Gln550Ter)
c.1705C>T (p.Gln569Ter)
c.1744C>T (p.Gln582Ter)
c.1411C>T (p.Gln471Ter)
n.1984C>T
n.1875C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426516A>CCA345667841SDCCAG8c.1943A>C (p.Gln648Pro)
c.1046A>C (p.Gln349Pro)
n.150A>C
c.1814A>C (p.Gln605Pro)
c.1520A>C (p.Gln507Pro)
c.1040A>C (p.Gln347Pro)
c.1022A>C (p.Gln341Pro)
c.1973A>C (p.Gln658Pro)
c.1844A>C (p.Gln615Pro)
c.1784A>C (p.Gln595Pro)
c.2069A>C (p.Gln690Pro)
c.2039A>C (p.Gln680Pro)
c.1880A>C (p.Gln627Pro)
c.1832A>C (p.Gln611Pro)
c.1655A>C (p.Gln552Pro)
c.1607A>C (p.Gln536Pro)
c.998A>C (p.Gln333Pro)
n.2093A>C
c.1649A>C (p.Gln550Pro)
c.1706A>C (p.Gln569Pro)
c.1745A>C (p.Gln582Pro)
c.1412A>C (p.Gln471Pro)
n.1985A>C
n.1876A>C
1g.243426516A>GCA345667843SDCCAG8c.1943A>G (p.Gln648Arg)
c.1046A>G (p.Gln349Arg)
n.150A>G
c.1814A>G (p.Gln605Arg)
c.1520A>G (p.Gln507Arg)
c.1040A>G (p.Gln347Arg)
c.1022A>G (p.Gln341Arg)
c.1973A>G (p.Gln658Arg)
c.1844A>G (p.Gln615Arg)
c.1784A>G (p.Gln595Arg)
c.2069A>G (p.Gln690Arg)
c.2039A>G (p.Gln680Arg)
c.1880A>G (p.Gln627Arg)
c.1832A>G (p.Gln611Arg)
c.1655A>G (p.Gln552Arg)
c.1607A>G (p.Gln536Arg)
c.998A>G (p.Gln333Arg)
n.2093A>G
c.1649A>G (p.Gln550Arg)
c.1706A>G (p.Gln569Arg)
c.1745A>G (p.Gln582Arg)
c.1412A>G (p.Gln471Arg)
n.1985A>G
n.1876A>G
1g.243426516A>TCA345667842SDCCAG8c.1943A>T (p.Gln648Leu)
c.1046A>T (p.Gln349Leu)
n.150A>T
c.1814A>T (p.Gln605Leu)
c.1520A>T (p.Gln507Leu)
c.1040A>T (p.Gln347Leu)
c.1022A>T (p.Gln341Leu)
c.1973A>T (p.Gln658Leu)
c.1844A>T (p.Gln615Leu)
c.1784A>T (p.Gln595Leu)
c.2069A>T (p.Gln690Leu)
c.2039A>T (p.Gln680Leu)
c.1880A>T (p.Gln627Leu)
c.1832A>T (p.Gln611Leu)
c.1655A>T (p.Gln552Leu)
c.1607A>T (p.Gln536Leu)
c.998A>T (p.Gln333Leu)
n.2093A>T
c.1649A>T (p.Gln550Leu)
c.1706A>T (p.Gln569Leu)
c.1745A>T (p.Gln582Leu)
c.1412A>T (p.Gln471Leu)
n.1985A>T
n.1876A>T
1g.243426516_243426517delinsAGCA1230390617SDCCAG8c.1943_1944delinsAG (p.Gln648=)
c.1046_1047delinsAG (p.Gln349=)
n.150_151delinsAG
c.1814_1815delinsAG (p.Gln605=)
c.1520_1521delinsAG (p.Gln507=)
c.1040_1041delinsAG (p.Gln347=)
c.1022_1023delinsAG (p.Gln341=)
c.1973_1974delinsAG (p.Gln658=)
c.1844_1845delinsAG (p.Gln615=)
c.1784_1785delinsAG (p.Gln595=)
c.2069_2070delinsAG (p.Gln690=)
c.2039_2040delinsAG (p.Gln680=)
c.1880_1881delinsAG (p.Gln627=)
c.1832_1833delinsAG (p.Gln611=)
c.1655_1656delinsAG (p.Gln552=)
c.1607_1608delinsAG (p.Gln536=)
c.998_999delinsAG (p.Gln333=)
n.2093_2094delinsAG
c.1649_1650delinsAG (p.Gln550=)
c.1706_1707delinsAG (p.Gln569=)
c.1745_1746delinsAG (p.Gln582=)
c.1412_1413delinsAG (p.Gln471=)
n.1985_1986delinsAG
n.1876_1877delinsAG
1g.243426516_243426520delinsAGTGTCA1230390616SDCCAG8c.1943_1947delinsAGTGT (p.Gln648=)
c.1046_1050delinsAGTGT (p.Gln349=)
n.150_154delinsAGTGT
c.1814_1818delinsAGTGT (p.Gln605=)
c.1520_1524delinsAGTGT (p.Gln507=)
c.1040_1044delinsAGTGT (p.Gln347=)
c.1022_1026delinsAGTGT (p.Gln341=)
c.1973_1977delinsAGTGT (p.Gln658=)
c.1844_1848delinsAGTGT (p.Gln615=)
c.1784_1788delinsAGTGT (p.Gln595=)
c.2069_2073delinsAGTGT (p.Gln690=)
c.2039_2043delinsAGTGT (p.Gln680=)
c.1880_1884delinsAGTGT (p.Gln627=)
c.1832_1836delinsAGTGT (p.Gln611=)
c.1655_1659delinsAGTGT (p.Gln552=)
c.1607_1611delinsAGTGT (p.Gln536=)
c.998_1002delinsAGTGT (p.Gln333=)
n.2093_2097delinsAGTGT
c.1649_1653delinsAGTGT (p.Gln550=)
c.1706_1710delinsAGTGT (p.Gln569=)
c.1745_1749delinsAGTGT (p.Gln582=)
c.1412_1416delinsAGTGT (p.Gln471=)
n.1985_1989delinsAGTGT
n.1876_1880delinsAGTGT
1g.243426517delCA1483781SDCCAG8c.1944del (p.Gln648HisfsTer12)
c.1047del (p.Gln349HisfsTer12)
n.151del
c.1815del (p.Gln605HisfsTer12)
c.1521del (p.Gln507HisfsTer12)
c.1041del (p.Gln347HisfsTer12)
c.1023del (p.Gln341HisfsTer12)
c.1974del (p.Gln658HisfsTer12)
c.1845del (p.Gln615HisfsTer12)
c.1785del (p.Gln595HisfsTer12)
c.2070del (p.Gln690HisfsTer12)
c.2040del (p.Gln680HisfsTer12)
c.1881del (p.Gln627HisfsTer12)
c.1833del (p.Gln611HisfsTer12)
c.1656del (p.Gln552HisfsTer12)
c.1608del (p.Gln536HisfsTer12)
c.999del (p.Gln333HisfsTer12)
n.2094del
c.1650del (p.Gln550HisfsTer12)
c.1707del (p.Gln569HisfsTer12)
c.1746del (p.Gln582HisfsTer12)
c.1413del (p.Gln471HisfsTer12)
n.1986del
n.1877del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.243426517G>ACA424346879SDCCAG8c.1944G>A (p.Gln648=)
c.1047G>A (p.Gln349=)
n.151G>A
c.1815G>A (p.Gln605=)
c.1521G>A (p.Gln507=)
c.1041G>A (p.Gln347=)
c.1023G>A (p.Gln341=)
c.1974G>A (p.Gln658=)
c.1845G>A (p.Gln615=)
c.1785G>A (p.Gln595=)
c.2070G>A (p.Gln690=)
c.2040G>A (p.Gln680=)
c.1881G>A (p.Gln627=)
c.1833G>A (p.Gln611=)
c.1656G>A (p.Gln552=)
c.1608G>A (p.Gln536=)
c.999G>A (p.Gln333=)
n.2094G>A
c.1650G>A (p.Gln550=)
c.1707G>A (p.Gln569=)
c.1746G>A (p.Gln582=)
c.1413G>A (p.Gln471=)
n.1986G>A
n.1877G>A
1g.243426517G>CCA345667844SDCCAG8c.1944G>C (p.Gln648His)
c.1047G>C (p.Gln349His)
n.151G>C
c.1815G>C (p.Gln605His)
c.1521G>C (p.Gln507His)
c.1041G>C (p.Gln347His)
c.1023G>C (p.Gln341His)
c.1974G>C (p.Gln658His)
c.1845G>C (p.Gln615His)
c.1785G>C (p.Gln595His)
c.2070G>C (p.Gln690His)
c.2040G>C (p.Gln680His)
c.1881G>C (p.Gln627His)
c.1833G>C (p.Gln611His)
c.1656G>C (p.Gln552His)
c.1608G>C (p.Gln536His)
c.999G>C (p.Gln333His)
n.2094G>C
c.1650G>C (p.Gln550His)
c.1707G>C (p.Gln569His)
c.1746G>C (p.Gln582His)
c.1413G>C (p.Gln471His)
n.1986G>C
n.1877G>C
 ClinVar dbSNP
1g.243426517G>TCA345667845SDCCAG8c.1944G>T (p.Gln648His)
c.1047G>T (p.Gln349His)
n.151G>T
c.1815G>T (p.Gln605His)
c.1521G>T (p.Gln507His)
c.1041G>T (p.Gln347His)
c.1023G>T (p.Gln341His)
c.1974G>T (p.Gln658His)
c.1845G>T (p.Gln615His)
c.1785G>T (p.Gln595His)
c.2070G>T (p.Gln690His)
c.2040G>T (p.Gln680His)
c.1881G>T (p.Gln627His)
c.1833G>T (p.Gln611His)
c.1656G>T (p.Gln552His)
c.1608G>T (p.Gln536His)
c.999G>T (p.Gln333His)
n.2094G>T
c.1650G>T (p.Gln550His)
c.1707G>T (p.Gln569His)
c.1746G>T (p.Gln582His)
c.1413G>T (p.Gln471His)
n.1986G>T
n.1877G>T
 gnomAD v4
1g.243426517_243426522delinsGTGTGTCA1144229334SDCCAG8c.1944_1949delinsGTGTGT (p.Gln648=)
c.1047_1052delinsGTGTGT (p.Gln349=)
n.151_156delinsGTGTGT
c.1815_1820delinsGTGTGT (p.Gln605=)
c.1521_1526delinsGTGTGT (p.Gln507=)
c.1041_1046delinsGTGTGT (p.Gln347=)
c.1023_1028delinsGTGTGT (p.Gln341=)
c.1974_1979delinsGTGTGT (p.Gln658=)
c.1845_1850delinsGTGTGT (p.Gln615=)
c.1785_1790delinsGTGTGT (p.Gln595=)
c.2070_2075delinsGTGTGT (p.Gln690=)
c.2040_2045delinsGTGTGT (p.Gln680=)
c.1881_1886delinsGTGTGT (p.Gln627=)
c.1833_1838delinsGTGTGT (p.Gln611=)
c.1656_1661delinsGTGTGT (p.Gln552=)
c.1608_1613delinsGTGTGT (p.Gln536=)
c.999_1004delinsGTGTGT (p.Gln333=)
n.2094_2099delinsGTGTGT
c.1650_1655delinsGTGTGT (p.Gln550=)
c.1707_1712delinsGTGTGT (p.Gln569=)
c.1746_1751delinsGTGTGT (p.Gln582=)
c.1413_1418delinsGTGTGT (p.Gln471=)
n.1986_1991delinsGTGTGT
n.1877_1882delinsGTGTGT
1g.243426519_243426522delCA113828SDCCAG8c.1946_1949del (p.Cys649SerfsTer10)
c.1049_1052del (p.Cys350SerfsTer10)
n.153_156del
c.1817_1820del (p.Cys606SerfsTer10)
c.1523_1526del (p.Cys508SerfsTer10)
c.1043_1046del (p.Cys348SerfsTer10)
c.1025_1028del (p.Cys342SerfsTer10)
c.1976_1979del (p.Cys659SerfsTer10)
c.1847_1850del (p.Cys616SerfsTer10)
c.1787_1790del (p.Cys596SerfsTer10)
c.2072_2075del (p.Cys691SerfsTer10)
c.2042_2045del (p.Cys681SerfsTer10)
c.1883_1886del (p.Cys628SerfsTer10)
c.1835_1838del (p.Cys612SerfsTer10)
c.1658_1661del (p.Cys553SerfsTer10)
c.1610_1613del (p.Cys537SerfsTer10)
c.1001_1004del (p.Cys334SerfsTer10)
n.2096_2099del
c.1652_1655del (p.Cys551SerfsTer10)
c.1709_1712del (p.Cys570SerfsTer10)
c.1748_1751del (p.Cys583SerfsTer10)
c.1415_1418del (p.Cys472SerfsTer10)
n.1988_1991del
n.1879_1882del
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.243426518T>ACA345667846SDCCAG8c.1945T>A (p.Cys649Ser)
c.1048T>A (p.Cys350Ser)
n.152T>A
c.1816T>A (p.Cys606Ser)
c.1522T>A (p.Cys508Ser)
c.1042T>A (p.Cys348Ser)
c.1024T>A (p.Cys342Ser)
c.1975T>A (p.Cys659Ser)
c.1846T>A (p.Cys616Ser)
c.1786T>A (p.Cys596Ser)
c.2071T>A (p.Cys691Ser)
c.2041T>A (p.Cys681Ser)
c.1882T>A (p.Cys628Ser)
c.1834T>A (p.Cys612Ser)
c.1657T>A (p.Cys553Ser)
c.1609T>A (p.Cys537Ser)
c.1000T>A (p.Cys334Ser)
n.2095T>A
c.1651T>A (p.Cys551Ser)
c.1708T>A (p.Cys570Ser)
c.1747T>A (p.Cys583Ser)
c.1414T>A (p.Cys472Ser)
n.1987T>A
n.1878T>A
1g.243426518T>CCA1483782SDCCAG8c.1945T>C (p.Cys649Arg)
c.1048T>C (p.Cys350Arg)
n.152T>C
c.1816T>C (p.Cys606Arg)
c.1522T>C (p.Cys508Arg)
c.1042T>C (p.Cys348Arg)
c.1024T>C (p.Cys342Arg)
c.1975T>C (p.Cys659Arg)
c.1846T>C (p.Cys616Arg)
c.1786T>C (p.Cys596Arg)
c.2071T>C (p.Cys691Arg)
c.2041T>C (p.Cys681Arg)
c.1882T>C (p.Cys628Arg)
c.1834T>C (p.Cys612Arg)
c.1657T>C (p.Cys553Arg)
c.1609T>C (p.Cys537Arg)
c.1000T>C (p.Cys334Arg)
n.2095T>C
c.1651T>C (p.Cys551Arg)
c.1708T>C (p.Cys570Arg)
c.1747T>C (p.Cys583Arg)
c.1414T>C (p.Cys472Arg)
n.1987T>C
n.1878T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426518T>GCA345667847SDCCAG8c.1945T>G (p.Cys649Gly)
c.1048T>G (p.Cys350Gly)
n.152T>G
c.1816T>G (p.Cys606Gly)
c.1522T>G (p.Cys508Gly)
c.1042T>G (p.Cys348Gly)
c.1024T>G (p.Cys342Gly)
c.1975T>G (p.Cys659Gly)
c.1846T>G (p.Cys616Gly)
c.1786T>G (p.Cys596Gly)
c.2071T>G (p.Cys691Gly)
c.2041T>G (p.Cys681Gly)
c.1882T>G (p.Cys628Gly)
c.1834T>G (p.Cys612Gly)
c.1657T>G (p.Cys553Gly)
c.1609T>G (p.Cys537Gly)
c.1000T>G (p.Cys334Gly)
n.2095T>G
c.1651T>G (p.Cys551Gly)
c.1708T>G (p.Cys570Gly)
c.1747T>G (p.Cys583Gly)
c.1414T>G (p.Cys472Gly)
n.1987T>G
n.1878T>G
1g.243426518T=CA1143819908SDCCAG8c.1945T= (p.Cys649=)
c.1048T= (p.Cys350=)
n.152T=
c.1816T= (p.Cys606=)
c.1522T= (p.Cys508=)
c.1042T= (p.Cys348=)
c.1024T= (p.Cys342=)
c.1975T= (p.Cys659=)
c.1846T= (p.Cys616=)
c.1786T= (p.Cys596=)
c.2071T= (p.Cys691=)
c.2041T= (p.Cys681=)
c.1882T= (p.Cys628=)
c.1834T= (p.Cys612=)
c.1657T= (p.Cys553=)
c.1609T= (p.Cys537=)
c.1000T= (p.Cys334=)
n.2095T=
c.1651T= (p.Cys551=)
c.1708T= (p.Cys570=)
c.1747T= (p.Cys583=)
c.1414T= (p.Cys472=)
n.1987T=
n.1878T=
1g.243426519G>ACA345667848SDCCAG8c.1946G>A (p.Cys649Tyr)
c.1049G>A (p.Cys350Tyr)
n.153G>A
c.1817G>A (p.Cys606Tyr)
c.1523G>A (p.Cys508Tyr)
c.1043G>A (p.Cys348Tyr)
c.1025G>A (p.Cys342Tyr)
c.1976G>A (p.Cys659Tyr)
c.1847G>A (p.Cys616Tyr)
c.1787G>A (p.Cys596Tyr)
c.2072G>A (p.Cys691Tyr)
c.2042G>A (p.Cys681Tyr)
c.1883G>A (p.Cys628Tyr)
c.1835G>A (p.Cys612Tyr)
c.1658G>A (p.Cys553Tyr)
c.1610G>A (p.Cys537Tyr)
c.1001G>A (p.Cys334Tyr)
n.2096G>A
c.1652G>A (p.Cys551Tyr)
c.1709G>A (p.Cys570Tyr)
c.1748G>A (p.Cys583Tyr)
c.1415G>A (p.Cys472Tyr)
n.1988G>A
n.1879G>A
1g.243426519G>CCA345667849SDCCAG8c.1946G>C (p.Cys649Ser)
c.1049G>C (p.Cys350Ser)
n.153G>C
c.1817G>C (p.Cys606Ser)
c.1523G>C (p.Cys508Ser)
c.1043G>C (p.Cys348Ser)
c.1025G>C (p.Cys342Ser)
c.1976G>C (p.Cys659Ser)
c.1847G>C (p.Cys616Ser)
c.1787G>C (p.Cys596Ser)
c.2072G>C (p.Cys691Ser)
c.2042G>C (p.Cys681Ser)
c.1883G>C (p.Cys628Ser)
c.1835G>C (p.Cys612Ser)
c.1658G>C (p.Cys553Ser)
c.1610G>C (p.Cys537Ser)
c.1001G>C (p.Cys334Ser)
n.2096G>C
c.1652G>C (p.Cys551Ser)
c.1709G>C (p.Cys570Ser)
c.1748G>C (p.Cys583Ser)
c.1415G>C (p.Cys472Ser)
n.1988G>C
n.1879G>C
1g.243426519G>TCA345667850SDCCAG8c.1946G>T (p.Cys649Phe)
c.1049G>T (p.Cys350Phe)
n.153G>T
c.1817G>T (p.Cys606Phe)
c.1523G>T (p.Cys508Phe)
c.1043G>T (p.Cys348Phe)
c.1025G>T (p.Cys342Phe)
c.1976G>T (p.Cys659Phe)
c.1847G>T (p.Cys616Phe)
c.1787G>T (p.Cys596Phe)
c.2072G>T (p.Cys691Phe)
c.2042G>T (p.Cys681Phe)
c.1883G>T (p.Cys628Phe)
c.1835G>T (p.Cys612Phe)
c.1658G>T (p.Cys553Phe)
c.1610G>T (p.Cys537Phe)
c.1001G>T (p.Cys334Phe)
n.2096G>T
c.1652G>T (p.Cys551Phe)
c.1709G>T (p.Cys570Phe)
c.1748G>T (p.Cys583Phe)
c.1415G>T (p.Cys472Phe)
n.1988G>T
n.1879G>T
 COSMIC
1g.243426520T>ACA345667851SDCCAG8c.1947T>A (p.Cys649Ter)
c.1050T>A (p.Cys350Ter)
n.154T>A
c.1818T>A (p.Cys606Ter)
c.1524T>A (p.Cys508Ter)
c.1044T>A (p.Cys348Ter)
c.1026T>A (p.Cys342Ter)
c.1977T>A (p.Cys659Ter)
c.1848T>A (p.Cys616Ter)
c.1788T>A (p.Cys596Ter)
c.2073T>A (p.Cys691Ter)
c.2043T>A (p.Cys681Ter)
c.1884T>A (p.Cys628Ter)
c.1836T>A (p.Cys612Ter)
c.1659T>A (p.Cys553Ter)
c.1611T>A (p.Cys537Ter)
c.1002T>A (p.Cys334Ter)
n.2097T>A
c.1653T>A (p.Cys551Ter)
c.1710T>A (p.Cys570Ter)
c.1749T>A (p.Cys583Ter)
c.1416T>A (p.Cys472Ter)
n.1989T>A
n.1880T>A
1g.243426520T>CCA424346880SDCCAG8c.1947T>C (p.Cys649=)
c.1050T>C (p.Cys350=)
n.154T>C
c.1818T>C (p.Cys606=)
c.1524T>C (p.Cys508=)
c.1044T>C (p.Cys348=)
c.1026T>C (p.Cys342=)
c.1977T>C (p.Cys659=)
c.1848T>C (p.Cys616=)
c.1788T>C (p.Cys596=)
c.2073T>C (p.Cys691=)
c.2043T>C (p.Cys681=)
c.1884T>C (p.Cys628=)
c.1836T>C (p.Cys612=)
c.1659T>C (p.Cys553=)
c.1611T>C (p.Cys537=)
c.1002T>C (p.Cys334=)
n.2097T>C
c.1653T>C (p.Cys551=)
c.1710T>C (p.Cys570=)
c.1749T>C (p.Cys583=)
c.1416T>C (p.Cys472=)
n.1989T>C
n.1880T>C
1g.243426520T>GCA345667852SDCCAG8c.1947T>G (p.Cys649Trp)
c.1050T>G (p.Cys350Trp)
n.154T>G
c.1818T>G (p.Cys606Trp)
c.1524T>G (p.Cys508Trp)
c.1044T>G (p.Cys348Trp)
c.1026T>G (p.Cys342Trp)
c.1977T>G (p.Cys659Trp)
c.1848T>G (p.Cys616Trp)
c.1788T>G (p.Cys596Trp)
c.2073T>G (p.Cys691Trp)
c.2043T>G (p.Cys681Trp)
c.1884T>G (p.Cys628Trp)
c.1836T>G (p.Cys612Trp)
c.1659T>G (p.Cys553Trp)
c.1611T>G (p.Cys537Trp)
c.1002T>G (p.Cys334Trp)
n.2097T>G
c.1653T>G (p.Cys551Trp)
c.1710T>G (p.Cys570Trp)
c.1749T>G (p.Cys583Trp)
c.1416T>G (p.Cys472Trp)
n.1989T>G
n.1880T>G
1g.243426521G>ACA345667855SDCCAG8c.1948G>A (p.Val650Ile)
c.1051G>A (p.Val351Ile)
n.155G>A
c.1819G>A (p.Val607Ile)
c.1525G>A (p.Val509Ile)
c.1045G>A (p.Val349Ile)
c.1027G>A (p.Val343Ile)
c.1978G>A (p.Val660Ile)
c.1849G>A (p.Val617Ile)
c.1789G>A (p.Val597Ile)
c.2074G>A (p.Val692Ile)
c.2044G>A (p.Val682Ile)
c.1885G>A (p.Val629Ile)
c.1837G>A (p.Val613Ile)
c.1660G>A (p.Val554Ile)
c.1612G>A (p.Val538Ile)
c.1003G>A (p.Val335Ile)
n.2098G>A
c.1654G>A (p.Val552Ile)
c.1711G>A (p.Val571Ile)
c.1750G>A (p.Val584Ile)
c.1417G>A (p.Val473Ile)
n.1990G>A
n.1881G>A
 gnomAD v4
1g.243426521G>CCA345667853SDCCAG8c.1948G>C (p.Val650Leu)
c.1051G>C (p.Val351Leu)
n.155G>C
c.1819G>C (p.Val607Leu)
c.1525G>C (p.Val509Leu)
c.1045G>C (p.Val349Leu)
c.1027G>C (p.Val343Leu)
c.1978G>C (p.Val660Leu)
c.1849G>C (p.Val617Leu)
c.1789G>C (p.Val597Leu)
c.2074G>C (p.Val692Leu)
c.2044G>C (p.Val682Leu)
c.1885G>C (p.Val629Leu)
c.1837G>C (p.Val613Leu)
c.1660G>C (p.Val554Leu)
c.1612G>C (p.Val538Leu)
c.1003G>C (p.Val335Leu)
n.2098G>C
c.1654G>C (p.Val552Leu)
c.1711G>C (p.Val571Leu)
c.1750G>C (p.Val584Leu)
c.1417G>C (p.Val473Leu)
n.1990G>C
n.1881G>C
1g.243426521G>TCA345667854SDCCAG8c.1948G>T (p.Val650Phe)
c.1051G>T (p.Val351Phe)
n.155G>T
c.1819G>T (p.Val607Phe)
c.1525G>T (p.Val509Phe)
c.1045G>T (p.Val349Phe)
c.1027G>T (p.Val343Phe)
c.1978G>T (p.Val660Phe)
c.1849G>T (p.Val617Phe)
c.1789G>T (p.Val597Phe)
c.2074G>T (p.Val692Phe)
c.2044G>T (p.Val682Phe)
c.1885G>T (p.Val629Phe)
c.1837G>T (p.Val613Phe)
c.1660G>T (p.Val554Phe)
c.1612G>T (p.Val538Phe)
c.1003G>T (p.Val335Phe)
n.2098G>T
c.1654G>T (p.Val552Phe)
c.1711G>T (p.Val571Phe)
c.1750G>T (p.Val584Phe)
c.1417G>T (p.Val473Phe)
n.1990G>T
n.1881G>T
 dbSNP gnomAD v4
1g.243426522T>ACA345667856SDCCAG8c.1949T>A (p.Val650Asp)
c.1052T>A (p.Val351Asp)
n.156T>A
c.1820T>A (p.Val607Asp)
c.1526T>A (p.Val509Asp)
c.1046T>A (p.Val349Asp)
c.1028T>A (p.Val343Asp)
c.1979T>A (p.Val660Asp)
c.1850T>A (p.Val617Asp)
c.1790T>A (p.Val597Asp)
c.2075T>A (p.Val692Asp)
c.2045T>A (p.Val682Asp)
c.1886T>A (p.Val629Asp)
c.1838T>A (p.Val613Asp)
c.1661T>A (p.Val554Asp)
c.1613T>A (p.Val538Asp)
c.1004T>A (p.Val335Asp)
n.2099T>A
c.1655T>A (p.Val552Asp)
c.1712T>A (p.Val571Asp)
c.1751T>A (p.Val584Asp)
c.1418T>A (p.Val473Asp)
n.1991T>A
n.1882T>A
1g.243426522T>CCA345667857SDCCAG8c.1949T>C (p.Val650Ala)
c.1052T>C (p.Val351Ala)
n.156T>C
c.1820T>C (p.Val607Ala)
c.1526T>C (p.Val509Ala)
c.1046T>C (p.Val349Ala)
c.1028T>C (p.Val343Ala)
c.1979T>C (p.Val660Ala)
c.1850T>C (p.Val617Ala)
c.1790T>C (p.Val597Ala)
c.2075T>C (p.Val692Ala)
c.2045T>C (p.Val682Ala)
c.1886T>C (p.Val629Ala)
c.1838T>C (p.Val613Ala)
c.1661T>C (p.Val554Ala)
c.1613T>C (p.Val538Ala)
c.1004T>C (p.Val335Ala)
n.2099T>C
c.1655T>C (p.Val552Ala)
c.1712T>C (p.Val571Ala)
c.1751T>C (p.Val584Ala)
c.1418T>C (p.Val473Ala)
n.1991T>C
n.1882T>C
1g.243426522T>GCA345667858SDCCAG8c.1949T>G (p.Val650Gly)
c.1052T>G (p.Val351Gly)
n.156T>G
c.1820T>G (p.Val607Gly)
c.1526T>G (p.Val509Gly)
c.1046T>G (p.Val349Gly)
c.1028T>G (p.Val343Gly)
c.1979T>G (p.Val660Gly)
c.1850T>G (p.Val617Gly)
c.1790T>G (p.Val597Gly)
c.2075T>G (p.Val692Gly)
c.2045T>G (p.Val682Gly)
c.1886T>G (p.Val629Gly)
c.1838T>G (p.Val613Gly)
c.1661T>G (p.Val554Gly)
c.1613T>G (p.Val538Gly)
c.1004T>G (p.Val335Gly)
n.2099T>G
c.1655T>G (p.Val552Gly)
c.1712T>G (p.Val571Gly)
c.1751T>G (p.Val584Gly)
c.1418T>G (p.Val473Gly)
n.1991T>G
n.1882T>G
1g.243426523C>ACA424346883SDCCAG8c.1950C>A (p.Val650=)
c.1053C>A (p.Val351=)
n.157C>A
c.1821C>A (p.Val607=)
c.1527C>A (p.Val509=)
c.1047C>A (p.Val349=)
c.1029C>A (p.Val343=)
c.1980C>A (p.Val660=)
c.1851C>A (p.Val617=)
c.1791C>A (p.Val597=)
c.2076C>A (p.Val692=)
c.2046C>A (p.Val682=)
c.1887C>A (p.Val629=)
c.1839C>A (p.Val613=)
c.1662C>A (p.Val554=)
c.1614C>A (p.Val538=)
c.1005C>A (p.Val335=)
n.2100C>A
c.1656C>A (p.Val552=)
c.1713C>A (p.Val571=)
c.1752C>A (p.Val584=)
c.1419C>A (p.Val473=)
n.1992C>A
n.1883C>A
 gnomAD v4
1g.243426523C>GCA424346882SDCCAG8c.1950C>G (p.Val650=)
c.1053C>G (p.Val351=)
n.157C>G
c.1821C>G (p.Val607=)
c.1527C>G (p.Val509=)
c.1047C>G (p.Val349=)
c.1029C>G (p.Val343=)
c.1980C>G (p.Val660=)
c.1851C>G (p.Val617=)
c.1791C>G (p.Val597=)
c.2076C>G (p.Val692=)
c.2046C>G (p.Val682=)
c.1887C>G (p.Val629=)
c.1839C>G (p.Val613=)
c.1662C>G (p.Val554=)
c.1614C>G (p.Val538=)
c.1005C>G (p.Val335=)
n.2100C>G
c.1656C>G (p.Val552=)
c.1713C>G (p.Val571=)
c.1752C>G (p.Val584=)
c.1419C>G (p.Val473=)
n.1992C>G
n.1883C>G
1g.243426523C>TCA424346881SDCCAG8c.1950C>T (p.Val650=)
c.1053C>T (p.Val351=)
n.157C>T
c.1821C>T (p.Val607=)
c.1527C>T (p.Val509=)
c.1047C>T (p.Val349=)
c.1029C>T (p.Val343=)
c.1980C>T (p.Val660=)
c.1851C>T (p.Val617=)
c.1791C>T (p.Val597=)
c.2076C>T (p.Val692=)
c.2046C>T (p.Val682=)
c.1887C>T (p.Val629=)
c.1839C>T (p.Val613=)
c.1662C>T (p.Val554=)
c.1614C>T (p.Val538=)
c.1005C>T (p.Val335=)
n.2100C>T
c.1656C>T (p.Val552=)
c.1713C>T (p.Val571=)
c.1752C>T (p.Val584=)
c.1419C>T (p.Val473=)
n.1992C>T
n.1883C>T
1g.243426524C>ACA345667859SDCCAG8c.1951C>A (p.Gln651Lys)
c.1054C>A (p.Gln352Lys)
n.158C>A
c.1822C>A (p.Gln608Lys)
c.1528C>A (p.Gln510Lys)
c.1048C>A (p.Gln350Lys)
c.1030C>A (p.Gln344Lys)
c.1981C>A (p.Gln661Lys)
c.1852C>A (p.Gln618Lys)
c.1792C>A (p.Gln598Lys)
c.2077C>A (p.Gln693Lys)
c.2047C>A (p.Gln683Lys)
c.1888C>A (p.Gln630Lys)
c.1840C>A (p.Gln614Lys)
c.1663C>A (p.Gln555Lys)
c.1615C>A (p.Gln539Lys)
c.1006C>A (p.Gln336Lys)
n.2101C>A
c.1657C>A (p.Gln553Lys)
c.1714C>A (p.Gln572Lys)
c.1753C>A (p.Gln585Lys)
c.1420C>A (p.Gln474Lys)
n.1993C>A
n.1884C>A
1g.243426524C>GCA345667860SDCCAG8c.1951C>G (p.Gln651Glu)
c.1054C>G (p.Gln352Glu)
n.158C>G
c.1822C>G (p.Gln608Glu)
c.1528C>G (p.Gln510Glu)
c.1048C>G (p.Gln350Glu)
c.1030C>G (p.Gln344Glu)
c.1981C>G (p.Gln661Glu)
c.1852C>G (p.Gln618Glu)
c.1792C>G (p.Gln598Glu)
c.2077C>G (p.Gln693Glu)
c.2047C>G (p.Gln683Glu)
c.1888C>G (p.Gln630Glu)
c.1840C>G (p.Gln614Glu)
c.1663C>G (p.Gln555Glu)
c.1615C>G (p.Gln539Glu)
c.1006C>G (p.Gln336Glu)
n.2101C>G
c.1657C>G (p.Gln553Glu)
c.1714C>G (p.Gln572Glu)
c.1753C>G (p.Gln585Glu)
c.1420C>G (p.Gln474Glu)
n.1993C>G
n.1884C>G
1g.243426524C>TCA345667861SDCCAG8c.1951C>T (p.Gln651Ter)
c.1054C>T (p.Gln352Ter)
n.158C>T
c.1822C>T (p.Gln608Ter)
c.1528C>T (p.Gln510Ter)
c.1048C>T (p.Gln350Ter)
c.1030C>T (p.Gln344Ter)
c.1981C>T (p.Gln661Ter)
c.1852C>T (p.Gln618Ter)
c.1792C>T (p.Gln598Ter)
c.2077C>T (p.Gln693Ter)
c.2047C>T (p.Gln683Ter)
c.1888C>T (p.Gln630Ter)
c.1840C>T (p.Gln614Ter)
c.1663C>T (p.Gln555Ter)
c.1615C>T (p.Gln539Ter)
c.1006C>T (p.Gln336Ter)
n.2101C>T
c.1657C>T (p.Gln553Ter)
c.1714C>T (p.Gln572Ter)
c.1753C>T (p.Gln585Ter)
c.1420C>T (p.Gln474Ter)
n.1993C>T
n.1884C>T
1g.243426525A>CCA345667862SDCCAG8c.1952A>C (p.Gln651Pro)
c.1055A>C (p.Gln352Pro)
n.159A>C
c.1823A>C (p.Gln608Pro)
c.1529A>C (p.Gln510Pro)
c.1049A>C (p.Gln350Pro)
c.1031A>C (p.Gln344Pro)
c.1982A>C (p.Gln661Pro)
c.1853A>C (p.Gln618Pro)
c.1793A>C (p.Gln598Pro)
c.2078A>C (p.Gln693Pro)
c.2048A>C (p.Gln683Pro)
c.1889A>C (p.Gln630Pro)
c.1841A>C (p.Gln614Pro)
c.1664A>C (p.Gln555Pro)
c.1616A>C (p.Gln539Pro)
c.1007A>C (p.Gln336Pro)
n.2102A>C
c.1658A>C (p.Gln553Pro)
c.1715A>C (p.Gln572Pro)
c.1754A>C (p.Gln585Pro)
c.1421A>C (p.Gln474Pro)
n.1994A>C
n.1885A>C
1g.243426525A>GCA345667863SDCCAG8c.1952A>G (p.Gln651Arg)
c.1055A>G (p.Gln352Arg)
n.159A>G
c.1823A>G (p.Gln608Arg)
c.1529A>G (p.Gln510Arg)
c.1049A>G (p.Gln350Arg)
c.1031A>G (p.Gln344Arg)
c.1982A>G (p.Gln661Arg)
c.1853A>G (p.Gln618Arg)
c.1793A>G (p.Gln598Arg)
c.2078A>G (p.Gln693Arg)
c.2048A>G (p.Gln683Arg)
c.1889A>G (p.Gln630Arg)
c.1841A>G (p.Gln614Arg)
c.1664A>G (p.Gln555Arg)
c.1616A>G (p.Gln539Arg)
c.1007A>G (p.Gln336Arg)
n.2102A>G
c.1658A>G (p.Gln553Arg)
c.1715A>G (p.Gln572Arg)
c.1754A>G (p.Gln585Arg)
c.1421A>G (p.Gln474Arg)
n.1994A>G
n.1885A>G
1g.243426525A>TCA345667864SDCCAG8c.1952A>T (p.Gln651Leu)
c.1055A>T (p.Gln352Leu)
n.159A>T
c.1823A>T (p.Gln608Leu)
c.1529A>T (p.Gln510Leu)
c.1049A>T (p.Gln350Leu)
c.1031A>T (p.Gln344Leu)
c.1982A>T (p.Gln661Leu)
c.1853A>T (p.Gln618Leu)
c.1793A>T (p.Gln598Leu)
c.2078A>T (p.Gln693Leu)
c.2048A>T (p.Gln683Leu)
c.1889A>T (p.Gln630Leu)
c.1841A>T (p.Gln614Leu)
c.1664A>T (p.Gln555Leu)
c.1616A>T (p.Gln539Leu)
c.1007A>T (p.Gln336Leu)
n.2102A>T
c.1658A>T (p.Gln553Leu)
c.1715A>T (p.Gln572Leu)
c.1754A>T (p.Gln585Leu)
c.1421A>T (p.Gln474Leu)
n.1994A>T
n.1885A>T
1g.243426526G>ACA424346884SDCCAG8c.1953G>A (p.Gln651=)
c.1056G>A (p.Gln352=)
n.160G>A
c.1824G>A (p.Gln608=)
c.1530G>A (p.Gln510=)
c.1050G>A (p.Gln350=)
c.1032G>A (p.Gln344=)
c.1983G>A (p.Gln661=)
c.1854G>A (p.Gln618=)
c.1794G>A (p.Gln598=)
c.2079G>A (p.Gln693=)
c.2049G>A (p.Gln683=)
c.1890G>A (p.Gln630=)
c.1842G>A (p.Gln614=)
c.1665G>A (p.Gln555=)
c.1617G>A (p.Gln539=)
c.1008G>A (p.Gln336=)
n.2103G>A
c.1659G>A (p.Gln553=)
c.1716G>A (p.Gln572=)
c.1755G>A (p.Gln585=)
c.1422G>A (p.Gln474=)
n.1995G>A
n.1886G>A
1g.243426526G>CCA345667865SDCCAG8c.1953G>C (p.Gln651His)
c.1056G>C (p.Gln352His)
n.160G>C
c.1824G>C (p.Gln608His)
c.1530G>C (p.Gln510His)
c.1050G>C (p.Gln350His)
c.1032G>C (p.Gln344His)
c.1983G>C (p.Gln661His)
c.1854G>C (p.Gln618His)
c.1794G>C (p.Gln598His)
c.2079G>C (p.Gln693His)
c.2049G>C (p.Gln683His)
c.1890G>C (p.Gln630His)
c.1842G>C (p.Gln614His)
c.1665G>C (p.Gln555His)
c.1617G>C (p.Gln539His)
c.1008G>C (p.Gln336His)
n.2103G>C
c.1659G>C (p.Gln553His)
c.1716G>C (p.Gln572His)
c.1755G>C (p.Gln585His)
c.1422G>C (p.Gln474His)
n.1995G>C
n.1886G>C
1g.243426526G>TCA345667866SDCCAG8c.1953G>T (p.Gln651His)
c.1056G>T (p.Gln352His)
n.160G>T
c.1824G>T (p.Gln608His)
c.1530G>T (p.Gln510His)
c.1050G>T (p.Gln350His)
c.1032G>T (p.Gln344His)
c.1983G>T (p.Gln661His)
c.1854G>T (p.Gln618His)
c.1794G>T (p.Gln598His)
c.2079G>T (p.Gln693His)
c.2049G>T (p.Gln683His)
c.1890G>T (p.Gln630His)
c.1842G>T (p.Gln614His)
c.1665G>T (p.Gln555His)
c.1617G>T (p.Gln539His)
c.1008G>T (p.Gln336His)
n.2103G>T
c.1659G>T (p.Gln553His)
c.1716G>T (p.Gln572His)
c.1755G>T (p.Gln585His)
c.1422G>T (p.Gln474His)
n.1995G>T
n.1886G>T
1g.243426527C>ACA345667869SDCCAG8c.1954C>A (p.His652Asn)
c.1057C>A (p.His353Asn)
n.161C>A
c.1825C>A (p.His609Asn)
c.1531C>A (p.His511Asn)
c.1051C>A (p.His351Asn)
c.1033C>A (p.His345Asn)
c.1984C>A (p.His662Asn)
c.1855C>A (p.His619Asn)
c.1795C>A (p.His599Asn)
c.2080C>A (p.His694Asn)
c.2050C>A (p.His684Asn)
c.1891C>A (p.His631Asn)
c.1843C>A (p.His615Asn)
c.1666C>A (p.His556Asn)
c.1618C>A (p.His540Asn)
c.1009C>A (p.His337Asn)
n.2104C>A
c.1660C>A (p.His554Asn)
c.1717C>A (p.His573Asn)
c.1756C>A (p.His586Asn)
c.1423C>A (p.His475Asn)
n.1996C>A
n.1887C>A
1g.243426527C>GCA345667868SDCCAG8c.1954C>G (p.His652Asp)
c.1057C>G (p.His353Asp)
n.161C>G
c.1825C>G (p.His609Asp)
c.1531C>G (p.His511Asp)
c.1051C>G (p.His351Asp)
c.1033C>G (p.His345Asp)
c.1984C>G (p.His662Asp)
c.1855C>G (p.His619Asp)
c.1795C>G (p.His599Asp)
c.2080C>G (p.His694Asp)
c.2050C>G (p.His684Asp)
c.1891C>G (p.His631Asp)
c.1843C>G (p.His615Asp)
c.1666C>G (p.His556Asp)
c.1618C>G (p.His540Asp)
c.1009C>G (p.His337Asp)
n.2104C>G
c.1660C>G (p.His554Asp)
c.1717C>G (p.His573Asp)
c.1756C>G (p.His586Asp)
c.1423C>G (p.His475Asp)
n.1996C>G
n.1887C>G
1g.243426527C>TCA345667867SDCCAG8c.1954C>T (p.His652Tyr)
c.1057C>T (p.His353Tyr)
n.161C>T
c.1825C>T (p.His609Tyr)
c.1531C>T (p.His511Tyr)
c.1051C>T (p.His351Tyr)
c.1033C>T (p.His345Tyr)
c.1984C>T (p.His662Tyr)
c.1855C>T (p.His619Tyr)
c.1795C>T (p.His599Tyr)
c.2080C>T (p.His694Tyr)
c.2050C>T (p.His684Tyr)
c.1891C>T (p.His631Tyr)
c.1843C>T (p.His615Tyr)
c.1666C>T (p.His556Tyr)
c.1618C>T (p.His540Tyr)
c.1009C>T (p.His337Tyr)
n.2104C>T
c.1660C>T (p.His554Tyr)
c.1717C>T (p.His573Tyr)
c.1756C>T (p.His586Tyr)
c.1423C>T (p.His475Tyr)
n.1996C>T
n.1887C>T
 gnomAD v4
1g.243426528A=CA1148378849SDCCAG8c.1955A= (p.His652=)
c.1058A= (p.His353=)
n.162A=
c.1826A= (p.His609=)
c.1532A= (p.His511=)
c.1052A= (p.His351=)
c.1034A= (p.His345=)
c.1985A= (p.His662=)
c.1856A= (p.His619=)
c.1796A= (p.His599=)
c.2081A= (p.His694=)
c.2051A= (p.His684=)
c.1892A= (p.His631=)
c.1844A= (p.His615=)
c.1667A= (p.His556=)
c.1619A= (p.His540=)
c.1010A= (p.His337=)
n.2105A=
c.1661A= (p.His554=)
c.1718A= (p.His573=)
c.1757A= (p.His586=)
c.1424A= (p.His475=)
n.1997A=
n.1888A=
1g.243426528A>CCA345667870SDCCAG8c.1955A>C (p.His652Pro)
c.1058A>C (p.His353Pro)
n.162A>C
c.1826A>C (p.His609Pro)
c.1532A>C (p.His511Pro)
c.1052A>C (p.His351Pro)
c.1034A>C (p.His345Pro)
c.1985A>C (p.His662Pro)
c.1856A>C (p.His619Pro)
c.1796A>C (p.His599Pro)
c.2081A>C (p.His694Pro)
c.2051A>C (p.His684Pro)
c.1892A>C (p.His631Pro)
c.1844A>C (p.His615Pro)
c.1667A>C (p.His556Pro)
c.1619A>C (p.His540Pro)
c.1010A>C (p.His337Pro)
n.2105A>C
c.1661A>C (p.His554Pro)
c.1718A>C (p.His573Pro)
c.1757A>C (p.His586Pro)
c.1424A>C (p.His475Pro)
n.1997A>C
n.1888A>C
1g.243426528A>GCA1483783SDCCAG8c.1955A>G (p.His652Arg)
c.1058A>G (p.His353Arg)
n.162A>G
c.1826A>G (p.His609Arg)
c.1532A>G (p.His511Arg)
c.1052A>G (p.His351Arg)
c.1034A>G (p.His345Arg)
c.1985A>G (p.His662Arg)
c.1856A>G (p.His619Arg)
c.1796A>G (p.His599Arg)
c.2081A>G (p.His694Arg)
c.2051A>G (p.His684Arg)
c.1892A>G (p.His631Arg)
c.1844A>G (p.His615Arg)
c.1667A>G (p.His556Arg)
c.1619A>G (p.His540Arg)
c.1010A>G (p.His337Arg)
n.2105A>G
c.1661A>G (p.His554Arg)
c.1718A>G (p.His573Arg)
c.1757A>G (p.His586Arg)
c.1424A>G (p.His475Arg)
n.1997A>G
n.1888A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426528A>TCA345667871SDCCAG8c.1955A>T (p.His652Leu)
c.1058A>T (p.His353Leu)
n.162A>T
c.1826A>T (p.His609Leu)
c.1532A>T (p.His511Leu)
c.1052A>T (p.His351Leu)
c.1034A>T (p.His345Leu)
c.1985A>T (p.His662Leu)
c.1856A>T (p.His619Leu)
c.1796A>T (p.His599Leu)
c.2081A>T (p.His694Leu)
c.2051A>T (p.His684Leu)
c.1892A>T (p.His631Leu)
c.1844A>T (p.His615Leu)
c.1667A>T (p.His556Leu)
c.1619A>T (p.His540Leu)
c.1010A>T (p.His337Leu)
n.2105A>T
c.1661A>T (p.His554Leu)
c.1718A>T (p.His573Leu)
c.1757A>T (p.His586Leu)
c.1424A>T (p.His475Leu)
n.1997A>T
n.1888A>T
1g.243426529T>ACA345667872SDCCAG8c.1956T>A (p.His652Gln)
c.1059T>A (p.His353Gln)
n.163T>A
c.1827T>A (p.His609Gln)
c.1533T>A (p.His511Gln)
c.1053T>A (p.His351Gln)
c.1035T>A (p.His345Gln)
c.1986T>A (p.His662Gln)
c.1857T>A (p.His619Gln)
c.1797T>A (p.His599Gln)
c.2082T>A (p.His694Gln)
c.2052T>A (p.His684Gln)
c.1893T>A (p.His631Gln)
c.1845T>A (p.His615Gln)
c.1668T>A (p.His556Gln)
c.1620T>A (p.His540Gln)
c.1011T>A (p.His337Gln)
n.2106T>A
c.1662T>A (p.His554Gln)
c.1719T>A (p.His573Gln)
c.1758T>A (p.His586Gln)
c.1425T>A (p.His475Gln)
n.1998T>A
n.1889T>A
1g.243426529T>CCA41009611SDCCAG8c.1956T>C (p.His652=)
c.1059T>C (p.His353=)
n.163T>C
c.1827T>C (p.His609=)
c.1533T>C (p.His511=)
c.1053T>C (p.His351=)
c.1035T>C (p.His345=)
c.1986T>C (p.His662=)
c.1857T>C (p.His619=)
c.1797T>C (p.His599=)
c.2082T>C (p.His694=)
c.2052T>C (p.His684=)
c.1893T>C (p.His631=)
c.1845T>C (p.His615=)
c.1668T>C (p.His556=)
c.1620T>C (p.His540=)
c.1011T>C (p.His337=)
n.2106T>C
c.1662T>C (p.His554=)
c.1719T>C (p.His573=)
c.1758T>C (p.His586=)
c.1425T>C (p.His475=)
n.1998T>C
n.1889T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.243426529T>GCA345667873SDCCAG8c.1956T>G (p.His652Gln)
c.1059T>G (p.His353Gln)
n.163T>G
c.1827T>G (p.His609Gln)
c.1533T>G (p.His511Gln)
c.1053T>G (p.His351Gln)
c.1035T>G (p.His345Gln)
c.1986T>G (p.His662Gln)
c.1857T>G (p.His619Gln)
c.1797T>G (p.His599Gln)
c.2082T>G (p.His694Gln)
c.2052T>G (p.His684Gln)
c.1893T>G (p.His631Gln)
c.1845T>G (p.His615Gln)
c.1668T>G (p.His556Gln)
c.1620T>G (p.His540Gln)
c.1011T>G (p.His337Gln)
n.2106T>G
c.1662T>G (p.His554Gln)
c.1719T>G (p.His573Gln)
c.1758T>G (p.His586Gln)
c.1425T>G (p.His475Gln)
n.1998T>G
n.1889T>G
1g.243426529T=CA1230390618SDCCAG8c.1956T= (p.His652=)
c.1059T= (p.His353=)
n.163T=
c.1827T= (p.His609=)
c.1533T= (p.His511=)
c.1053T= (p.His351=)
c.1035T= (p.His345=)
c.1986T= (p.His662=)
c.1857T= (p.His619=)
c.1797T= (p.His599=)
c.2082T= (p.His694=)
c.2052T= (p.His684=)
c.1893T= (p.His631=)
c.1845T= (p.His615=)
c.1668T= (p.His556=)
c.1620T= (p.His540=)
c.1011T= (p.His337=)
n.2106T=
c.1662T= (p.His554=)
c.1719T= (p.His573=)
c.1758T= (p.His586=)
c.1425T= (p.His475=)
n.1998T=
n.1889T=

Number of alleles fetched