Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25897641_25897644delinsTCTCCA2383554940APPn.1960_1963delinsGAGA
n.390_393delinsGAGA
n.659_662delinsGAGA
c.1993_1996delinsGAGA (p.Glu665=)
c.1768_1771delinsGAGA (p.Glu590=)
c.1600_1603delinsGAGA (p.Glu534=)
c.1936_1939delinsGAGA (p.Glu646=)
c.1939_1942delinsGAGA (p.Glu647=)
c.1663_1666delinsGAGA (p.Glu555=)
c.1825_1828delinsGAGA (p.Glu609=)
c.1921_1924delinsGAGA (p.Glu641=)
n.340_343delinsGAGA
c.1882_1885delinsGAGA (p.Glu628=)
c.1714_1717delinsGAGA (p.Glu572=)
21g.25897646_25897648dupCA748247763APPn.1960_1962dup
n.390_392dup
n.659_661dup
c.1993_1995dup (p.Glu665_Ile666insGlu)
c.1768_1770dup (p.Glu590_Ile591insGlu)
c.1600_1602dup (p.Glu534_Ile535insGlu)
c.1936_1938dup (p.Glu646_Ile647insGlu)
c.1939_1941dup (p.Glu647_Ile648insGlu)
c.1663_1665dup (p.Glu555_Ile556insGlu)
c.1825_1827dup (p.Glu609_Ile610insGlu)
c.1921_1923dup (p.Glu641_Ile642insGlu)
n.340_342dup
c.1882_1884dup (p.Glu628_Ile629insGlu)
c.1714_1716dup (p.Glu572_Ile573insGlu)
dbSNP gnomAD v4
21g.25897646_25897648delCA9987101APPn.1960_1962del
n.390_392del
n.659_661del
c.1993_1995del (p.Glu665del)
c.1768_1770del (p.Glu590del)
c.1600_1602del (p.Glu534del)
c.1936_1938del (p.Glu646del)
c.1939_1941del (p.Glu647del)
c.1663_1665del (p.Glu555del)
c.1825_1827del (p.Glu609del)
c.1921_1923del (p.Glu641del)
n.340_342del
c.1882_1884del (p.Glu628del)
c.1714_1716del (p.Glu572del)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897643T>ACA409806518APPn.1961A>T
n.391A>T
n.660A>T
c.1994A>T (p.Glu665Val)
c.1769A>T (p.Glu590Val)
c.1601A>T (p.Glu534Val)
c.1937A>T (p.Glu646Val)
c.1940A>T (p.Glu647Val)
c.1664A>T (p.Glu555Val)
c.1826A>T (p.Glu609Val)
c.1922A>T (p.Glu641Val)
n.341A>T
c.1883A>T (p.Glu628Val)
c.1715A>T (p.Glu572Val)
21g.25897643T>CCA409806519APPn.1961A>G
n.391A>G
n.660A>G
c.1994A>G (p.Glu665Gly)
c.1769A>G (p.Glu590Gly)
c.1601A>G (p.Glu534Gly)
c.1937A>G (p.Glu646Gly)
c.1940A>G (p.Glu647Gly)
c.1664A>G (p.Glu555Gly)
c.1826A>G (p.Glu609Gly)
c.1922A>G (p.Glu641Gly)
n.341A>G
c.1883A>G (p.Glu628Gly)
c.1715A>G (p.Glu572Gly)
21g.25897643T>GCA409806521APPn.1961A>C
n.391A>C
n.660A>C
c.1994A>C (p.Glu665Ala)
c.1769A>C (p.Glu590Ala)
c.1601A>C (p.Glu534Ala)
c.1937A>C (p.Glu646Ala)
c.1940A>C (p.Glu647Ala)
c.1664A>C (p.Glu555Ala)
c.1826A>C (p.Glu609Ala)
c.1922A>C (p.Glu641Ala)
n.341A>C
c.1883A>C (p.Glu628Ala)
c.1715A>C (p.Glu572Ala)
21g.25897644C>ACA409806525APPn.1960G>T
n.390G>T
n.659G>T
c.1993G>T (p.Glu665Ter)
c.1768G>T (p.Glu590Ter)
c.1600G>T (p.Glu534Ter)
c.1936G>T (p.Glu646Ter)
c.1939G>T (p.Glu647Ter)
c.1663G>T (p.Glu555Ter)
c.1825G>T (p.Glu609Ter)
c.1921G>T (p.Glu641Ter)
n.340G>T
c.1882G>T (p.Glu628Ter)
c.1714G>T (p.Glu572Ter)
21g.25897644C=CA2383554942APPn.1960G=
n.390G=
n.659G=
c.1993G= (p.Glu665=)
c.1768G= (p.Glu590=)
c.1600G= (p.Glu534=)
c.1936G= (p.Glu646=)
c.1939G= (p.Glu647=)
c.1663G= (p.Glu555=)
c.1825G= (p.Glu609=)
c.1921G= (p.Glu641=)
n.340G=
c.1882G= (p.Glu628=)
c.1714G= (p.Glu572=)
21g.25897644C>GCA409806523APPn.1960G>C
n.390G>C
n.659G>C
c.1993G>C (p.Glu665Gln)
c.1768G>C (p.Glu590Gln)
c.1600G>C (p.Glu534Gln)
c.1936G>C (p.Glu646Gln)
c.1939G>C (p.Glu647Gln)
c.1663G>C (p.Glu555Gln)
c.1825G>C (p.Glu609Gln)
c.1921G>C (p.Glu641Gln)
n.340G>C
c.1882G>C (p.Glu628Gln)
c.1714G>C (p.Glu572Gln)
21g.25897644C>TCA9987102APPn.1960G>A
n.390G>A
n.659G>A
c.1993G>A (p.Glu665Lys)
c.1768G>A (p.Glu590Lys)
c.1600G>A (p.Glu534Lys)
c.1936G>A (p.Glu646Lys)
c.1939G>A (p.Glu647Lys)
c.1663G>A (p.Glu555Lys)
c.1825G>A (p.Glu609Lys)
c.1921G>A (p.Glu641Lys)
n.340G>A
c.1882G>A (p.Glu628Lys)
c.1714G>A (p.Glu572Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897645C>ACA409806528APPn.1959G>T
n.389G>T
n.658G>T
c.1992G>T (p.Glu664Asp)
c.1767G>T (p.Glu589Asp)
c.1599G>T (p.Glu533Asp)
c.1935G>T (p.Glu645Asp)
c.1938G>T (p.Glu646Asp)
c.1662G>T (p.Glu554Asp)
c.1824G>T (p.Glu608Asp)
c.1920G>T (p.Glu640Asp)
n.339G>T
c.1881G>T (p.Glu627Asp)
c.1713G>T (p.Glu571Asp)
21g.25897645C>GCA409806529APPn.1959G>C
n.389G>C
n.658G>C
c.1992G>C (p.Glu664Asp)
c.1767G>C (p.Glu589Asp)
c.1599G>C (p.Glu533Asp)
c.1935G>C (p.Glu645Asp)
c.1938G>C (p.Glu646Asp)
c.1662G>C (p.Glu554Asp)
c.1824G>C (p.Glu608Asp)
c.1920G>C (p.Glu640Asp)
n.339G>C
c.1881G>C (p.Glu627Asp)
c.1713G>C (p.Glu571Asp)
21g.25897645C>TCA511686300APPn.1959G>A
n.389G>A
n.658G>A
c.1992G>A (p.Glu664=)
c.1767G>A (p.Glu589=)
c.1599G>A (p.Glu533=)
c.1935G>A (p.Glu645=)
c.1938G>A (p.Glu646=)
c.1662G>A (p.Glu554=)
c.1824G>A (p.Glu608=)
c.1920G>A (p.Glu640=)
n.339G>A
c.1881G>A (p.Glu627=)
c.1713G>A (p.Glu571=)
gnomAD v4
21g.25897646T>ACA409806531APPn.1958A>T
n.388A>T
n.657A>T
c.1991A>T (p.Glu664Val)
c.1766A>T (p.Glu589Val)
c.1598A>T (p.Glu533Val)
c.1934A>T (p.Glu645Val)
c.1937A>T (p.Glu646Val)
c.1661A>T (p.Glu554Val)
c.1823A>T (p.Glu608Val)
c.1919A>T (p.Glu640Val)
n.338A>T
c.1880A>T (p.Glu627Val)
c.1712A>T (p.Glu571Val)
21g.25897646T>CCA409806533APPn.1958A>G
n.388A>G
n.657A>G
c.1991A>G (p.Glu664Gly)
c.1766A>G (p.Glu589Gly)
c.1598A>G (p.Glu533Gly)
c.1934A>G (p.Glu645Gly)
c.1937A>G (p.Glu646Gly)
c.1661A>G (p.Glu554Gly)
c.1823A>G (p.Glu608Gly)
c.1919A>G (p.Glu640Gly)
n.338A>G
c.1880A>G (p.Glu627Gly)
c.1712A>G (p.Glu571Gly)
21g.25897646T>GCA409806535APPn.1958A>C
n.388A>C
n.657A>C
c.1991A>C (p.Glu664Ala)
c.1766A>C (p.Glu589Ala)
c.1598A>C (p.Glu533Ala)
c.1934A>C (p.Glu645Ala)
c.1937A>C (p.Glu646Ala)
c.1661A>C (p.Glu554Ala)
c.1823A>C (p.Glu608Ala)
c.1919A>C (p.Glu640Ala)
n.338A>C
c.1880A>C (p.Glu627Ala)
c.1712A>C (p.Glu571Ala)
21g.25897647C>ACA409806541APPn.1957G>T
n.387G>T
n.656G>T
c.1990G>T (p.Glu664Ter)
c.1765G>T (p.Glu589Ter)
c.1597G>T (p.Glu533Ter)
c.1933G>T (p.Glu645Ter)
c.1936G>T (p.Glu646Ter)
c.1660G>T (p.Glu554Ter)
c.1822G>T (p.Glu608Ter)
c.1918G>T (p.Glu640Ter)
n.337G>T
c.1879G>T (p.Glu627Ter)
c.1711G>T (p.Glu571Ter)
21g.25897647C>GCA409806537APPn.1957G>C
n.387G>C
n.656G>C
c.1990G>C (p.Glu664Gln)
c.1765G>C (p.Glu589Gln)
c.1597G>C (p.Glu533Gln)
c.1933G>C (p.Glu645Gln)
c.1936G>C (p.Glu646Gln)
c.1660G>C (p.Glu554Gln)
c.1822G>C (p.Glu608Gln)
c.1918G>C (p.Glu640Gln)
n.337G>C
c.1879G>C (p.Glu627Gln)
c.1711G>C (p.Glu571Gln)
COSMIC
21g.25897647C>TCA409806540APPn.1957G>A
n.387G>A
n.656G>A
c.1990G>A (p.Glu664Lys)
c.1765G>A (p.Glu589Lys)
c.1597G>A (p.Glu533Lys)
c.1933G>A (p.Glu645Lys)
c.1936G>A (p.Glu646Lys)
c.1660G>A (p.Glu554Lys)
c.1822G>A (p.Glu608Lys)
c.1918G>A (p.Glu640Lys)
n.337G>A
c.1879G>A (p.Glu627Lys)
c.1711G>A (p.Glu571Lys)
21g.25897648C>ACA511686315APPn.1956G>T
n.386G>T
n.655G>T
c.1989G>T (p.Thr663=)
c.1764G>T (p.Thr588=)
c.1596G>T (p.Thr532=)
c.1932G>T (p.Thr644=)
c.1935G>T (p.Thr645=)
c.1659G>T (p.Thr553=)
c.1821G>T (p.Thr607=)
c.1917G>T (p.Thr639=)
n.336G>T
c.1878G>T (p.Thr626=)
c.1710G>T (p.Thr570=)
21g.25897648C=CA2383554943APPn.1956G=
n.386G=
n.655G=
c.1989G= (p.Thr663=)
c.1764G= (p.Thr588=)
c.1596G= (p.Thr532=)
c.1932G= (p.Thr644=)
c.1935G= (p.Thr645=)
c.1659G= (p.Thr553=)
c.1821G= (p.Thr607=)
c.1917G= (p.Thr639=)
n.336G=
c.1878G= (p.Thr626=)
c.1710G= (p.Thr570=)
21g.25897648C>GCA9987103APPn.1956G>C
n.386G>C
n.655G>C
c.1989G>C (p.Thr663=)
c.1764G>C (p.Thr588=)
c.1596G>C (p.Thr532=)
c.1932G>C (p.Thr644=)
c.1935G>C (p.Thr645=)
c.1659G>C (p.Thr553=)
c.1821G>C (p.Thr607=)
c.1917G>C (p.Thr639=)
n.336G>C
c.1878G>C (p.Thr626=)
c.1710G>C (p.Thr570=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897648C>TCA319103543APPn.1956G>A
n.386G>A
n.655G>A
c.1989G>A (p.Thr663=)
c.1764G>A (p.Thr588=)
c.1596G>A (p.Thr532=)
c.1932G>A (p.Thr644=)
c.1935G>A (p.Thr645=)
c.1659G>A (p.Thr553=)
c.1821G>A (p.Thr607=)
c.1917G>A (p.Thr639=)
n.336G>A
c.1878G>A (p.Thr626=)
c.1710G>A (p.Thr570=)
dbSNP gnomAD v4
21g.25897649G>ACA9987104APPn.1955C>T
n.385C>T
n.654C>T
c.1988C>T (p.Thr663Met)
c.1763C>T (p.Thr588Met)
c.1595C>T (p.Thr532Met)
c.1931C>T (p.Thr644Met)
c.1934C>T (p.Thr645Met)
c.1658C>T (p.Thr553Met)
c.1820C>T (p.Thr607Met)
c.1916C>T (p.Thr639Met)
n.335C>T
c.1877C>T (p.Thr626Met)
c.1709C>T (p.Thr570Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897649G>CCA409806542APPn.1955C>G
n.385C>G
n.654C>G
c.1988C>G (p.Thr663Arg)
c.1763C>G (p.Thr588Arg)
c.1595C>G (p.Thr532Arg)
c.1931C>G (p.Thr644Arg)
c.1934C>G (p.Thr645Arg)
c.1658C>G (p.Thr553Arg)
c.1820C>G (p.Thr607Arg)
c.1916C>G (p.Thr639Arg)
n.335C>G
c.1877C>G (p.Thr626Arg)
c.1709C>G (p.Thr570Arg)
21g.25897649G=CA2383554944APPn.1955C=
n.385C=
n.654C=
c.1988C= (p.Thr663=)
c.1763C= (p.Thr588=)
c.1595C= (p.Thr532=)
c.1931C= (p.Thr644=)
c.1934C= (p.Thr645=)
c.1658C= (p.Thr553=)
c.1820C= (p.Thr607=)
c.1916C= (p.Thr639=)
n.335C=
c.1877C= (p.Thr626=)
c.1709C= (p.Thr570=)
21g.25897649G>TCA409806544APPn.1955C>A
n.385C>A
n.654C>A
c.1988C>A (p.Thr663Lys)
c.1763C>A (p.Thr588Lys)
c.1595C>A (p.Thr532Lys)
c.1931C>A (p.Thr644Lys)
c.1934C>A (p.Thr645Lys)
c.1658C>A (p.Thr553Lys)
c.1820C>A (p.Thr607Lys)
c.1916C>A (p.Thr639Lys)
n.335C>A
c.1877C>A (p.Thr626Lys)
c.1709C>A (p.Thr570Lys)
21g.25897649_25897655delinsGTCTTGACA2383554945APPn.1949_1955delinsTCAAGAC
n.379_385delinsTCAAGAC
n.648_654delinsTCAAGAC
c.1982_1988delinsTCAAGAC (p.Ile661=)
c.1757_1763delinsTCAAGAC (p.Ile586=)
c.1589_1595delinsTCAAGAC (p.Ile530=)
c.1925_1931delinsTCAAGAC (p.Ile642=)
c.1928_1934delinsTCAAGAC (p.Ile643=)
c.1652_1658delinsTCAAGAC (p.Ile551=)
c.1814_1820delinsTCAAGAC (p.Ile605=)
c.1910_1916delinsTCAAGAC (p.Ile637=)
n.329_335delinsTCAAGAC
c.1871_1877delinsTCAAGAC (p.Ile624=)
c.1703_1709delinsTCAAGAC (p.Ile568=)
21g.25897650T>ACA409806545APPn.1954A>T
n.384A>T
n.653A>T
c.1987A>T (p.Thr663Ser)
c.1762A>T (p.Thr588Ser)
c.1594A>T (p.Thr532Ser)
c.1930A>T (p.Thr644Ser)
c.1933A>T (p.Thr645Ser)
c.1657A>T (p.Thr553Ser)
c.1819A>T (p.Thr607Ser)
c.1915A>T (p.Thr639Ser)
n.334A>T
c.1876A>T (p.Thr626Ser)
c.1708A>T (p.Thr570Ser)
21g.25897650T>CCA409806546APPn.1954A>G
n.384A>G
n.653A>G
c.1987A>G (p.Thr663Ala)
c.1762A>G (p.Thr588Ala)
c.1594A>G (p.Thr532Ala)
c.1930A>G (p.Thr644Ala)
c.1933A>G (p.Thr645Ala)
c.1657A>G (p.Thr553Ala)
c.1819A>G (p.Thr607Ala)
c.1915A>G (p.Thr639Ala)
n.334A>G
c.1876A>G (p.Thr626Ala)
c.1708A>G (p.Thr570Ala)
gnomAD v4
21g.25897650T>GCA409806547APPn.1954A>C
n.384A>C
n.653A>C
c.1987A>C (p.Thr663Pro)
c.1762A>C (p.Thr588Pro)
c.1594A>C (p.Thr532Pro)
c.1930A>C (p.Thr644Pro)
c.1933A>C (p.Thr645Pro)
c.1657A>C (p.Thr553Pro)
c.1819A>C (p.Thr607Pro)
c.1915A>C (p.Thr639Pro)
n.334A>C
c.1876A>C (p.Thr626Pro)
c.1708A>C (p.Thr570Pro)
21g.25897651_25897656delCA2383554946APPn.1949_1954del
n.379_384del
n.648_653del
c.1982_1987del (p.Ile661_Lys662del)
c.1757_1762del (p.Ile586_Lys587del)
c.1589_1594del (p.Ile530_Lys531del)
c.1925_1930del (p.Ile642_Lys643del)
c.1928_1933del (p.Ile643_Lys644del)
c.1652_1657del (p.Ile551_Lys552del)
c.1814_1819del (p.Ile605_Lys606del)
c.1910_1915del (p.Ile637_Lys638del)
n.329_334del
c.1871_1876del (p.Ile624_Lys625del)
c.1703_1708del (p.Ile568_Lys569del)
dbSNP
21g.25897651C>ACA409806548APPn.1953G>T
n.383G>T
n.652G>T
c.1986G>T (p.Lys662Asn)
c.1761G>T (p.Lys587Asn)
c.1593G>T (p.Lys531Asn)
c.1929G>T (p.Lys643Asn)
c.1932G>T (p.Lys644Asn)
c.1656G>T (p.Lys552Asn)
c.1818G>T (p.Lys606Asn)
c.1914G>T (p.Lys638Asn)
n.333G>T
c.1875G>T (p.Lys625Asn)
c.1707G>T (p.Lys569Asn)
21g.25897651C>GCA409806549APPn.1953G>C
n.383G>C
n.652G>C
c.1986G>C (p.Lys662Asn)
c.1761G>C (p.Lys587Asn)
c.1593G>C (p.Lys531Asn)
c.1929G>C (p.Lys643Asn)
c.1932G>C (p.Lys644Asn)
c.1656G>C (p.Lys552Asn)
c.1818G>C (p.Lys606Asn)
c.1914G>C (p.Lys638Asn)
n.333G>C
c.1875G>C (p.Lys625Asn)
c.1707G>C (p.Lys569Asn)
21g.25897651C>TCA511686327APPn.1953G>A
n.383G>A
n.652G>A
c.1986G>A (p.Lys662=)
c.1761G>A (p.Lys587=)
c.1593G>A (p.Lys531=)
c.1929G>A (p.Lys643=)
c.1932G>A (p.Lys644=)
c.1656G>A (p.Lys552=)
c.1818G>A (p.Lys606=)
c.1914G>A (p.Lys638=)
n.333G>A
c.1875G>A (p.Lys625=)
c.1707G>A (p.Lys569=)
21g.25897652T>ACA409806550APPn.1952A>T
n.382A>T
n.651A>T
c.1985A>T (p.Lys662Met)
c.1760A>T (p.Lys587Met)
c.1592A>T (p.Lys531Met)
c.1928A>T (p.Lys643Met)
c.1931A>T (p.Lys644Met)
c.1655A>T (p.Lys552Met)
c.1817A>T (p.Lys606Met)
c.1913A>T (p.Lys638Met)
n.332A>T
c.1874A>T (p.Lys625Met)
c.1706A>T (p.Lys569Met)
21g.25897652T>CCA409806551APPn.1952A>G
n.382A>G
n.651A>G
c.1985A>G (p.Lys662Arg)
c.1760A>G (p.Lys587Arg)
c.1592A>G (p.Lys531Arg)
c.1928A>G (p.Lys643Arg)
c.1931A>G (p.Lys644Arg)
c.1655A>G (p.Lys552Arg)
c.1817A>G (p.Lys606Arg)
c.1913A>G (p.Lys638Arg)
n.332A>G
c.1874A>G (p.Lys625Arg)
c.1706A>G (p.Lys569Arg)
21g.25897652T>GCA409806552APPn.1952A>C
n.382A>C
n.651A>C
c.1985A>C (p.Lys662Thr)
c.1760A>C (p.Lys587Thr)
c.1592A>C (p.Lys531Thr)
c.1928A>C (p.Lys643Thr)
c.1931A>C (p.Lys644Thr)
c.1655A>C (p.Lys552Thr)
c.1817A>C (p.Lys606Thr)
c.1913A>C (p.Lys638Thr)
n.332A>C
c.1874A>C (p.Lys625Thr)
c.1706A>C (p.Lys569Thr)
21g.25897653T>ACA409806553APPn.1951A>T
n.381A>T
n.650A>T
c.1984A>T (p.Lys662Ter)
c.1759A>T (p.Lys587Ter)
c.1591A>T (p.Lys531Ter)
c.1927A>T (p.Lys643Ter)
c.1930A>T (p.Lys644Ter)
c.1654A>T (p.Lys552Ter)
c.1816A>T (p.Lys606Ter)
c.1912A>T (p.Lys638Ter)
n.331A>T
c.1873A>T (p.Lys625Ter)
c.1705A>T (p.Lys569Ter)
21g.25897653T>CCA409806555APPn.1951A>G
n.381A>G
n.650A>G
c.1984A>G (p.Lys662Glu)
c.1759A>G (p.Lys587Glu)
c.1591A>G (p.Lys531Glu)
c.1927A>G (p.Lys643Glu)
c.1930A>G (p.Lys644Glu)
c.1654A>G (p.Lys552Glu)
c.1816A>G (p.Lys606Glu)
c.1912A>G (p.Lys638Glu)
n.331A>G
c.1873A>G (p.Lys625Glu)
c.1705A>G (p.Lys569Glu)
21g.25897653T>GCA409806554APPn.1951A>C
n.381A>C
n.650A>C
c.1984A>C (p.Lys662Gln)
c.1759A>C (p.Lys587Gln)
c.1591A>C (p.Lys531Gln)
c.1927A>C (p.Lys643Gln)
c.1930A>C (p.Lys644Gln)
c.1654A>C (p.Lys552Gln)
c.1816A>C (p.Lys606Gln)
c.1912A>C (p.Lys638Gln)
n.331A>C
c.1873A>C (p.Lys625Gln)
c.1705A>C (p.Lys569Gln)
21g.25897654G>ACA511686342APPn.1950C>T
n.380C>T
n.649C>T
c.1983C>T (p.Ile661=)
c.1758C>T (p.Ile586=)
c.1590C>T (p.Ile530=)
c.1926C>T (p.Ile642=)
c.1929C>T (p.Ile643=)
c.1653C>T (p.Ile551=)
c.1815C>T (p.Ile605=)
c.1911C>T (p.Ile637=)
n.330C>T
c.1872C>T (p.Ile624=)
c.1704C>T (p.Ile568=)
dbSNP
21g.25897654G>CCA409806556APPn.1950C>G
n.380C>G
n.649C>G
c.1983C>G (p.Ile661Met)
c.1758C>G (p.Ile586Met)
c.1590C>G (p.Ile530Met)
c.1926C>G (p.Ile642Met)
c.1929C>G (p.Ile643Met)
c.1653C>G (p.Ile551Met)
c.1815C>G (p.Ile605Met)
c.1911C>G (p.Ile637Met)
n.330C>G
c.1872C>G (p.Ile624Met)
c.1704C>G (p.Ile568Met)
21g.25897654G=CA2383554947APPn.1950C=
n.380C=
n.649C=
c.1983C= (p.Ile661=)
c.1758C= (p.Ile586=)
c.1590C= (p.Ile530=)
c.1926C= (p.Ile642=)
c.1929C= (p.Ile643=)
c.1653C= (p.Ile551=)
c.1815C= (p.Ile605=)
c.1911C= (p.Ile637=)
n.330C=
c.1872C= (p.Ile624=)
c.1704C= (p.Ile568=)
21g.25897654G>TCA511686341APPn.1950C>A
n.380C>A
n.649C>A
c.1983C>A (p.Ile661=)
c.1758C>A (p.Ile586=)
c.1590C>A (p.Ile530=)
c.1926C>A (p.Ile642=)
c.1929C>A (p.Ile643=)
c.1653C>A (p.Ile551=)
c.1815C>A (p.Ile605=)
c.1911C>A (p.Ile637=)
n.330C>A
c.1872C>A (p.Ile624=)
c.1704C>A (p.Ile568=)
21g.25897655A=CA2383554948APPn.1949T=
n.379T=
n.648T=
c.1982T= (p.Ile661=)
c.1757T= (p.Ile586=)
c.1589T= (p.Ile530=)
c.1925T= (p.Ile642=)
c.1928T= (p.Ile643=)
c.1652T= (p.Ile551=)
c.1814T= (p.Ile605=)
c.1910T= (p.Ile637=)
n.329T=
c.1871T= (p.Ile624=)
c.1703T= (p.Ile568=)
21g.25897655A>CCA409806557APPn.1949T>G
n.379T>G
n.648T>G
c.1982T>G (p.Ile661Ser)
c.1757T>G (p.Ile586Ser)
c.1589T>G (p.Ile530Ser)
c.1925T>G (p.Ile642Ser)
c.1928T>G (p.Ile643Ser)
c.1652T>G (p.Ile551Ser)
c.1814T>G (p.Ile605Ser)
c.1910T>G (p.Ile637Ser)
n.329T>G
c.1871T>G (p.Ile624Ser)
c.1703T>G (p.Ile568Ser)
gnomAD v4
21g.25897655A>GCA9987105APPn.1949T>C
n.379T>C
n.648T>C
c.1982T>C (p.Ile661Thr)
c.1757T>C (p.Ile586Thr)
c.1589T>C (p.Ile530Thr)
c.1925T>C (p.Ile642Thr)
c.1928T>C (p.Ile643Thr)
c.1652T>C (p.Ile551Thr)
c.1814T>C (p.Ile605Thr)
c.1910T>C (p.Ile637Thr)
n.329T>C
c.1871T>C (p.Ile624Thr)
c.1703T>C (p.Ile568Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897655A>TCA409806558APPn.1949T>A
n.379T>A
n.648T>A
c.1982T>A (p.Ile661Asn)
c.1757T>A (p.Ile586Asn)
c.1589T>A (p.Ile530Asn)
c.1925T>A (p.Ile642Asn)
c.1928T>A (p.Ile643Asn)
c.1652T>A (p.Ile551Asn)
c.1814T>A (p.Ile605Asn)
c.1910T>A (p.Ile637Asn)
n.329T>A
c.1871T>A (p.Ile624Asn)
c.1703T>A (p.Ile568Asn)
21g.25897656T>ACA409806559APPn.1948A>T
n.378A>T
n.647A>T
c.1981A>T (p.Ile661Phe)
c.1756A>T (p.Ile586Phe)
c.1588A>T (p.Ile530Phe)
c.1924A>T (p.Ile642Phe)
c.1927A>T (p.Ile643Phe)
c.1651A>T (p.Ile551Phe)
c.1813A>T (p.Ile605Phe)
c.1909A>T (p.Ile637Phe)
n.328A>T
c.1870A>T (p.Ile624Phe)
c.1702A>T (p.Ile568Phe)

Number of alleles fetched