Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247425322_247425325del | CA1014489555 | NLRP3 | c.1873_1876del (p.Gln625TrpfsTer?) c.1738_1741del (p.Gln580TrpfsTer?) c.1879_1882del (p.Gln627TrpfsTer?) n.2054_2057del | gnomAD v3 gnomAD v4 |
1 | g.247425321C>A | CA345558006 | NLRP3 | c.1872C>A (p.Ser624Arg) c.1737C>A (p.Ser579Arg) c.1878C>A (p.Ser626Arg) n.2053C>A | COSMIC |
1 | g.247425321C= | CA1232099038 | NLRP3 | c.1872C= (p.Ser624=) c.1737C= (p.Ser579=) c.1878C= (p.Ser626=) n.2053C= | |
1 | g.247425321C>G | CA345558007 | NLRP3 | c.1872C>G (p.Ser624Arg) c.1737C>G (p.Ser579Arg) c.1878C>G (p.Ser626Arg) n.2053C>G | |
1 | g.247425321C>T | CA424582920 | NLRP3 | c.1872C>T (p.Ser624=) c.1737C>T (p.Ser579=) c.1878C>T (p.Ser626=) n.2053C>T | dbSNP |
1 | g.247425322C>A | CA345558008 | NLRP3 | c.1873C>A (p.Gln625Lys) c.1738C>A (p.Gln580Lys) c.1879C>A (p.Gln627Lys) n.2054C>A | COSMIC |
1 | g.247425322C>G | CA345558009 | NLRP3 | c.1873C>G (p.Gln625Glu) c.1738C>G (p.Gln580Glu) c.1879C>G (p.Gln627Glu) n.2054C>G | |
1 | g.247425322C>T | CA345558010 | NLRP3 | c.1873C>T (p.Gln625Ter) c.1738C>T (p.Gln580Ter) c.1879C>T (p.Gln627Ter) n.2054C>T | |
1 | g.247425323A>C | CA345558011 | NLRP3 | c.1874A>C (p.Gln625Pro) c.1739A>C (p.Gln580Pro) c.1880A>C (p.Gln627Pro) n.2055A>C | |
1 | g.247425323A>G | CA345558012 | NLRP3 | c.1874A>G (p.Gln625Arg) c.1739A>G (p.Gln580Arg) c.1880A>G (p.Gln627Arg) n.2055A>G | COSMIC |
1 | g.247425323A>T | CA345558013 | NLRP3 | c.1874A>T (p.Gln625Leu) c.1739A>T (p.Gln580Leu) c.1880A>T (p.Gln627Leu) n.2055A>T | |
1 | g.247425324G>A | CA424582922 | NLRP3 | c.1875G>A (p.Gln625=) c.1740G>A (p.Gln580=) c.1881G>A (p.Gln627=) n.2056G>A | |
1 | g.247425324G>C | CA345558014 | NLRP3 | c.1875G>C (p.Gln625His) c.1740G>C (p.Gln580His) c.1881G>C (p.Gln627His) n.2056G>C | |
1 | g.247425324G>T | CA345558015 | NLRP3 | c.1875G>T (p.Gln625His) c.1740G>T (p.Gln580His) c.1881G>T (p.Gln627His) n.2056G>T | |
1 | g.247425325C>A | CA345558017 | NLRP3 | c.1876C>A (p.Leu626Met) c.1741C>A (p.Leu581Met) c.1882C>A (p.Leu628Met) n.2057C>A | |
1 | g.247425325C>G | CA345558016 | NLRP3 | c.1876C>G (p.Leu626Val) c.1741C>G (p.Leu581Val) c.1882C>G (p.Leu628Val) n.2057C>G | |
1 | g.247425325C>T | CA424582923 | NLRP3 | c.1876C>T (p.Leu626=) c.1741C>T (p.Leu581=) c.1882C>T (p.Leu628=) n.2057C>T | |
1 | g.247425326T>A | CA345558018 | NLRP3 | c.1877T>A (p.Leu626Gln) c.1742T>A (p.Leu581Gln) c.1883T>A (p.Leu628Gln) n.2058T>A | |
1 | g.247425326T>C | CA345558020 | NLRP3 | c.1877T>C (p.Leu626Pro) c.1742T>C (p.Leu581Pro) c.1883T>C (p.Leu628Pro) n.2058T>C | |
1 | g.247425326T>G | CA345558019 | NLRP3 | c.1877T>G (p.Leu626Arg) c.1742T>G (p.Leu581Arg) c.1883T>G (p.Leu628Arg) n.2058T>G | |
1 | g.247425327G>A | CA424582927 | NLRP3 | c.1878G>A (p.Leu626=) c.1743G>A (p.Leu581=) c.1884G>A (p.Leu628=) n.2059G>A | |
1 | g.247425327G>C | CA424582928 | NLRP3 | c.1878G>C (p.Leu626=) c.1743G>C (p.Leu581=) c.1884G>C (p.Leu628=) n.2059G>C | |
1 | g.247425327G>T | CA424582929 | NLRP3 | c.1878G>T (p.Leu626=) c.1743G>T (p.Leu581=) c.1884G>T (p.Leu628=) n.2059G>T | |
1 | g.247425328G>A | CA345558021 | NLRP3 | c.1879G>A (p.Glu627Lys) c.1744G>A (p.Glu582Lys) c.1885G>A (p.Glu629Lys) n.2060G>A | COSMIC |
1 | g.247425328G>C | CA345558022 | NLRP3 | c.1879G>C (p.Glu627Gln) c.1744G>C (p.Glu582Gln) c.1885G>C (p.Glu629Gln) n.2060G>C | |
1 | g.247425328G>T | CA345558023 | NLRP3 | c.1879G>T (p.Glu627Ter) c.1744G>T (p.Glu582Ter) c.1885G>T (p.Glu629Ter) n.2060G>T | |
1 | g.247425329A= | CA1141581529 | NLRP3 | c.1880A= (p.Glu627=) c.1745A= (p.Glu582=) c.1886A= (p.Glu629=) n.2061A= | |
1 | g.247425329A>C | CA345558024 | NLRP3 | c.1880A>C (p.Glu627Ala) c.1745A>C (p.Glu582Ala) c.1886A>C (p.Glu629Ala) n.2061A>C | |
1 | g.247425329A>G | CA280966 | NLRP3 | c.1880A>G (p.Glu627Gly) c.1745A>G (p.Glu582Gly) c.1886A>G (p.Glu629Gly) n.2061A>G | ClinVar dbSNP |
1 | g.247425329A>T | CA345558025 | NLRP3 | c.1880A>T (p.Glu627Val) c.1745A>T (p.Glu582Val) c.1886A>T (p.Glu629Val) n.2061A>T | |
1 | g.247425330A>C | CA345558026 | NLRP3 | c.1881A>C (p.Glu627Asp) c.1746A>C (p.Glu582Asp) c.1887A>C (p.Glu629Asp) n.2062A>C | |
1 | g.247425330A>G | CA424582933 | NLRP3 | c.1881A>G (p.Glu627=) c.1746A>G (p.Glu582=) c.1887A>G (p.Glu629=) n.2062A>G | |
1 | g.247425330A>T | CA345558027 | NLRP3 | c.1881A>T (p.Glu627Asp) c.1746A>T (p.Glu582Asp) c.1887A>T (p.Glu629Asp) n.2062A>T | COSMIC |
1 | g.247425331T>A | CA345558028 | NLRP3 | c.1882T>A (p.Leu628Met) c.1747T>A (p.Leu583Met) c.1888T>A (p.Leu630Met) n.2063T>A | |
1 | g.247425331T>C | CA424582935 | NLRP3 | c.1882T>C (p.Leu628=) c.1747T>C (p.Leu583=) c.1888T>C (p.Leu630=) n.2063T>C | dbSNP |
1 | g.247425331T>G | CA345558029 | NLRP3 | c.1882T>G (p.Leu628Val) c.1747T>G (p.Leu583Val) c.1888T>G (p.Leu630Val) n.2063T>G | |
1 | g.247425331T= | CA1232099045 | NLRP3 | c.1882T= (p.Leu628=) c.1747T= (p.Leu583=) c.1888T= (p.Leu630=) n.2063T= | |
1 | g.247425332T>A | CA345558030 | NLRP3 | c.1883T>A (p.Leu628Ter) c.1748T>A (p.Leu583Ter) c.1889T>A (p.Leu630Ter) n.2064T>A | |
1 | g.247425332T>C | CA345558031 | NLRP3 | c.1883T>C (p.Leu628Ser) c.1748T>C (p.Leu583Ser) c.1889T>C (p.Leu630Ser) n.2064T>C | |
1 | g.247425332T>G | CA345558032 | NLRP3 | c.1883T>G (p.Leu628Trp) c.1748T>G (p.Leu583Trp) c.1889T>G (p.Leu630Trp) n.2064T>G | |
1 | g.247425333G>A | CA40692299 | NLRP3 | c.1884G>A (p.Leu628=) c.1749G>A (p.Leu583=) c.1890G>A (p.Leu630=) n.2065G>A | ClinVar dbSNP gnomAD v4 |
1 | g.247425333G>C | CA345558033 | NLRP3 | c.1884G>C (p.Leu628Phe) c.1749G>C (p.Leu583Phe) c.1890G>C (p.Leu630Phe) n.2065G>C | |
1 | g.247425333G= | CA1232099048 | NLRP3 | c.1884G= (p.Leu628=) c.1749G= (p.Leu583=) c.1890G= (p.Leu630=) n.2065G= | |
1 | g.247425333G>T | CA345558034 | NLRP3 | c.1884G>T (p.Leu628Phe) c.1749G>T (p.Leu583Phe) c.1890G>T (p.Leu630Phe) n.2065G>T | dbSNP gnomAD v4 COSMIC |
1 | g.247425334T>A | CA345558035 | NLRP3 | c.1885T>A (p.Phe629Ile) c.1750T>A (p.Phe584Ile) c.1891T>A (p.Phe631Ile) n.2066T>A | |
1 | g.247425334T>C | CA345558036 | NLRP3 | c.1885T>C (p.Phe629Leu) c.1750T>C (p.Phe584Leu) c.1891T>C (p.Phe631Leu) n.2066T>C | |
1 | g.247425334T>G | CA345558037 | NLRP3 | c.1885T>G (p.Phe629Val) c.1750T>G (p.Phe584Val) c.1891T>G (p.Phe631Val) n.2066T>G | |
1 | g.247425335T>A | CA345558038 | NLRP3 | c.1886T>A (p.Phe629Tyr) c.1751T>A (p.Phe584Tyr) c.1892T>A (p.Phe631Tyr) n.2067T>A | |
1 | g.247425335T>C | CA345558039 | NLRP3 | c.1886T>C (p.Phe629Ser) c.1751T>C (p.Phe584Ser) c.1892T>C (p.Phe631Ser) n.2067T>C | |
1 | g.247425335T>G | CA345558040 | NLRP3 | c.1886T>G (p.Phe629Cys) c.1751T>G (p.Phe584Cys) c.1892T>G (p.Phe631Cys) n.2067T>G | |
1 | g.247425336C>A | CA345558041 | NLRP3 | c.1887C>A (p.Phe629Leu) c.1752C>A (p.Phe584Leu) c.1893C>A (p.Phe631Leu) n.2068C>A | |
1 | g.247425336C= | CA1232099050 | NLRP3 | c.1887C= (p.Phe629=) c.1752C= (p.Phe584=) c.1893C= (p.Phe631=) n.2068C= | |
1 | g.247425336C>G | CA345558042 | NLRP3 | c.1887C>G (p.Phe629Leu) c.1752C>G (p.Phe584Leu) c.1893C>G (p.Phe631Leu) n.2068C>G | |
1 | g.247425336C>T | CA424582939 | NLRP3 | c.1887C>T (p.Phe629=) c.1752C>T (p.Phe584=) c.1893C>T (p.Phe631=) n.2068C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425337T>A | CA345558043 | NLRP3 | c.1888T>A (p.Tyr630Asn) c.1753T>A (p.Tyr585Asn) c.1894T>A (p.Tyr632Asn) n.2069T>A | |
1 | g.247425337T>C | CA345558044 | NLRP3 | c.1888T>C (p.Tyr630His) c.1753T>C (p.Tyr585His) c.1894T>C (p.Tyr632His) n.2069T>C | ClinVar |
1 | g.247425337T>G | CA345558045 | NLRP3 | c.1888T>G (p.Tyr630Asp) c.1753T>G (p.Tyr585Asp) c.1894T>G (p.Tyr632Asp) n.2069T>G | |
1 | g.247425338A= | CA1232099051 | NLRP3 | c.1889A= (p.Tyr630=) c.1754A= (p.Tyr585=) c.1895A= (p.Tyr632=) n.2070A= | |
1 | g.247425338A>C | CA345558047 | NLRP3 | c.1889A>C (p.Tyr630Ser) c.1754A>C (p.Tyr585Ser) c.1895A>C (p.Tyr632Ser) n.2070A>C | |
1 | g.247425338A>G | CA345558048 | NLRP3 | c.1889A>G (p.Tyr630Cys) c.1754A>G (p.Tyr585Cys) c.1895A>G (p.Tyr632Cys) n.2070A>G | |
1 | g.247425338A>T | CA345558046 | NLRP3 | c.1889A>T (p.Tyr630Phe) c.1754A>T (p.Tyr585Phe) c.1895A>T (p.Tyr632Phe) n.2070A>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425339C>A | CA345558049 | NLRP3 | c.1890C>A (p.Tyr630Ter) c.1755C>A (p.Tyr585Ter) c.1896C>A (p.Tyr632Ter) n.2071C>A | |
1 | g.247425339C>G | CA345558050 | NLRP3 | c.1890C>G (p.Tyr630Ter) c.1755C>G (p.Tyr585Ter) c.1896C>G (p.Tyr632Ter) n.2071C>G | |
1 | g.247425339C>T | CA424582941 | NLRP3 | c.1890C>T (p.Tyr630=) c.1755C>T (p.Tyr585=) c.1896C>T (p.Tyr632=) n.2071C>T | gnomAD v4 |
1 | g.247425340T>A | CA345558051 | NLRP3 | c.1891T>A (p.Cys631Ser) c.1756T>A (p.Cys586Ser) c.1897T>A (p.Cys633Ser) n.2072T>A | |
1 | g.247425340T>C | CA345558052 | NLRP3 | c.1891T>C (p.Cys631Arg) c.1756T>C (p.Cys586Arg) c.1897T>C (p.Cys633Arg) n.2072T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425340T>G | CA345558053 | NLRP3 | c.1891T>G (p.Cys631Gly) c.1756T>G (p.Cys586Gly) c.1897T>G (p.Cys633Gly) n.2072T>G | |
1 | g.247425340T= | CA1232099055 | NLRP3 | c.1891T= (p.Cys631=) c.1756T= (p.Cys586=) c.1897T= (p.Cys633=) n.2072T= | |
1 | g.247425341G>A | CA345558054 | NLRP3 | c.1892G>A (p.Cys631Tyr) c.1757G>A (p.Cys586Tyr) c.1898G>A (p.Cys633Tyr) n.2073G>A | gnomAD v4 COSMIC |
1 | g.247425341G>C | CA345558055 | NLRP3 | c.1892G>C (p.Cys631Ser) c.1757G>C (p.Cys586Ser) c.1898G>C (p.Cys633Ser) n.2073G>C | |
1 | g.247425341G>T | CA345558056 | NLRP3 | c.1892G>T (p.Cys631Phe) c.1757G>T (p.Cys586Phe) c.1898G>T (p.Cys633Phe) n.2073G>T | |
1 | g.247425342T>A | CA345558057 | NLRP3 | c.1893T>A (p.Cys631Ter) c.1758T>A (p.Cys586Ter) c.1899T>A (p.Cys633Ter) n.2074T>A | |
1 | g.247425342T>C | CA424582944 | NLRP3 | c.1893T>C (p.Cys631=) c.1758T>C (p.Cys586=) c.1899T>C (p.Cys633=) n.2074T>C | |
1 | g.247425342T>G | CA345558058 | NLRP3 | c.1893T>G (p.Cys631Trp) c.1758T>G (p.Cys586Trp) c.1899T>G (p.Cys633Trp) n.2074T>G | |
1 | g.247425344del | CA2651421234 | NLRP3 | c.1895del (p.Leu632CysfsTer?) c.1760del (p.Leu587CysfsTer?) c.1901del (p.Leu634CysfsTer?) n.2076del | gnomAD v4 |
1 | g.247425343T>A | CA345558059 | NLRP3 | c.1894T>A (p.Leu632Met) c.1759T>A (p.Leu587Met) c.1900T>A (p.Leu634Met) n.2075T>A | |
1 | g.247425343T>C | CA1495079 | NLRP3 | c.1894T>C (p.Leu632=) c.1759T>C (p.Leu587=) c.1900T>C (p.Leu634=) n.2075T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425343T>G | CA345558060 | NLRP3 | c.1894T>G (p.Leu632Val) c.1759T>G (p.Leu587Val) c.1900T>G (p.Leu634Val) n.2075T>G | |
1 | g.247425343T= | CA1232099056 | NLRP3 | c.1894T= (p.Leu632=) c.1759T= (p.Leu587=) c.1900T= (p.Leu634=) n.2075T= | |
1 | g.247425344T>A | CA345558062 | NLRP3 | c.1895T>A (p.Leu632Ter) c.1760T>A (p.Leu587Ter) c.1901T>A (p.Leu634Ter) n.2076T>A | COSMIC |
1 | g.247425344T>C | CA345558063 | NLRP3 | c.1895T>C (p.Leu632Ser) c.1760T>C (p.Leu587Ser) c.1901T>C (p.Leu634Ser) n.2076T>C | |
1 | g.247425344T>G | CA345558061 | NLRP3 | c.1895T>G (p.Leu632Trp) c.1760T>G (p.Leu587Trp) c.1901T>G (p.Leu634Trp) n.2076T>G | gnomAD v4 |
1 | g.247425345G>A | CA424582948 | NLRP3 | c.1896G>A (p.Leu632=) c.1761G>A (p.Leu587=) c.1902G>A (p.Leu634=) n.2077G>A | gnomAD v4 |
1 | g.247425345G>C | CA345558064 | NLRP3 | c.1896G>C (p.Leu632Phe) c.1761G>C (p.Leu587Phe) c.1902G>C (p.Leu634Phe) n.2077G>C | |
1 | g.247425345G= | CA1142421424 | NLRP3 | c.1896G= (p.Leu632=) c.1761G= (p.Leu587=) c.1902G= (p.Leu634=) n.2077G= | |
1 | g.247425345G>T | CA281282 | NLRP3 | c.1896G>T (p.Leu632Phe) c.1761G>T (p.Leu587Phe) c.1902G>T (p.Leu634Phe) n.2077G>T | ClinVar dbSNP |
1 | g.247425346T>A | CA345558065 | NLRP3 | c.1897T>A (p.Tyr633Asn) c.1762T>A (p.Tyr588Asn) c.1903T>A (p.Tyr635Asn) n.2078T>A | |
1 | g.247425346T>C | CA345558066 | NLRP3 | c.1897T>C (p.Tyr633His) c.1762T>C (p.Tyr588His) c.1903T>C (p.Tyr635His) n.2078T>C | gnomAD v4 |
1 | g.247425346T>G | CA345558067 | NLRP3 | c.1897T>G (p.Tyr633Asp) c.1762T>G (p.Tyr588Asp) c.1903T>G (p.Tyr635Asp) n.2078T>G | |
1 | g.247425347A>C | CA345558070 | NLRP3 | c.1898A>C (p.Tyr633Ser) c.1763A>C (p.Tyr588Ser) c.1904A>C (p.Tyr635Ser) n.2079A>C | |
1 | g.247425347A>G | CA345558069 | NLRP3 | c.1898A>G (p.Tyr633Cys) c.1763A>G (p.Tyr588Cys) c.1904A>G (p.Tyr635Cys) n.2079A>G | |
1 | g.247425347A>T | CA345558068 | NLRP3 | c.1898A>T (p.Tyr633Phe) c.1763A>T (p.Tyr588Phe) c.1904A>T (p.Tyr635Phe) n.2079A>T | |
1 | g.247425348C>A | CA345558071 | NLRP3 | c.1899C>A (p.Tyr633Ter) c.1764C>A (p.Tyr588Ter) c.1905C>A (p.Tyr635Ter) n.2080C>A | |
1 | g.247425348C= | CA1143394615 | NLRP3 | c.1899C= (p.Tyr633=) c.1764C= (p.Tyr588=) c.1905C= (p.Tyr635=) n.2080C= | |
1 | g.247425348C>G | CA1495081 | NLRP3 | c.1899C>G (p.Tyr633Ter) c.1764C>G (p.Tyr588Ter) c.1905C>G (p.Tyr635Ter) n.2080C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425348C>T | CA1495080 | NLRP3 | c.1899C>T (p.Tyr633=) c.1764C>T (p.Tyr588=) c.1905C>T (p.Tyr635=) n.2080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425349G>A | CA345558072 | NLRP3 | c.1900G>A (p.Glu634Lys) c.1765G>A (p.Glu589Lys) c.1906G>A (p.Glu636Lys) n.2081G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425349G>C | CA1495082 | NLRP3 | c.1900G>C (p.Glu634Gln) c.1765G>C (p.Glu589Gln) c.1906G>C (p.Glu636Gln) n.2081G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425349G= | CA1232099067 | NLRP3 | c.1900G= (p.Glu634=) c.1765G= (p.Glu589=) c.1906G= (p.Glu636=) n.2081G= | |
1 | g.247425349G>T | CA345558073 | NLRP3 | c.1900G>T (p.Glu634Ter) c.1765G>T (p.Glu589Ter) c.1906G>T (p.Glu636Ter) n.2081G>T | |
1 | g.247425350A>C | CA345558076 | NLRP3 | c.1901A>C (p.Glu634Ala) c.1766A>C (p.Glu589Ala) c.1907A>C (p.Glu636Ala) n.2082A>C | |
1 | g.247425350A>G | CA345558075 | NLRP3 | c.1901A>G (p.Glu634Gly) c.1766A>G (p.Glu589Gly) c.1907A>G (p.Glu636Gly) n.2082A>G | |
1 | g.247425350A>T | CA345558074 | NLRP3 | c.1901A>T (p.Glu634Val) c.1766A>T (p.Glu589Val) c.1907A>T (p.Glu636Val) n.2082A>T | |
1 | g.247425351G>A | CA424582952 | NLRP3 | c.1902G>A (p.Glu634=) c.1767G>A (p.Glu589=) c.1908G>A (p.Glu636=) n.2083G>A | dbSNP gnomAD v4 |
1 | g.247425351G>C | CA345558077 | NLRP3 | c.1902G>C (p.Glu634Asp) c.1767G>C (p.Glu589Asp) c.1908G>C (p.Glu636Asp) n.2083G>C | |
1 | g.247425351G= | CA1232099070 | NLRP3 | c.1902G= (p.Glu634=) c.1767G= (p.Glu589=) c.1908G= (p.Glu636=) n.2083G= | |
1 | g.247425351G>T | CA345558078 | NLRP3 | c.1902G>T (p.Glu634Asp) c.1767G>T (p.Glu589Asp) c.1908G>T (p.Glu636Asp) n.2083G>T | |
1 | g.247425352del | CA2651421303 | NLRP3 | c.1903del (p.Met635CysfsTer?) c.1768del (p.Met590CysfsTer?) c.1909del (p.Met637CysfsTer?) n.2084del | gnomAD v4 |
1 | g.247425352A= | CA1232099073 | NLRP3 | c.1903A= (p.Met635=) c.1768A= (p.Met590=) c.1909A= (p.Met637=) n.2084A= | |
1 | g.247425352A>C | CA345558079 | NLRP3 | c.1903A>C (p.Met635Leu) c.1768A>C (p.Met590Leu) c.1909A>C (p.Met637Leu) n.2084A>C | |
1 | g.247425352A>G | CA345558081 | NLRP3 | c.1903A>G (p.Met635Val) c.1768A>G (p.Met590Val) c.1909A>G (p.Met637Val) n.2084A>G | |
1 | g.247425352A>T | CA345558080 | NLRP3 | c.1903A>T (p.Met635Leu) c.1768A>T (p.Met590Leu) c.1909A>T (p.Met637Leu) n.2084A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425353T>A | CA345558082 | NLRP3 | c.1904T>A (p.Met635Lys) c.1769T>A (p.Met590Lys) c.1910T>A (p.Met637Lys) n.2085T>A | |
1 | g.247425353T>C | CA345558084 | NLRP3 | c.1904T>C (p.Met635Thr) c.1769T>C (p.Met590Thr) c.1910T>C (p.Met637Thr) n.2085T>C | ClinVar |
1 | g.247425353T>G | CA345558083 | NLRP3 | c.1904T>G (p.Met635Arg) c.1769T>G (p.Met590Arg) c.1910T>G (p.Met637Arg) n.2085T>G | |
1 | g.247425354G>A | CA345558085 | NLRP3 | c.1905G>A (p.Met635Ile) c.1770G>A (p.Met590Ile) c.1911G>A (p.Met637Ile) n.2086G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425354G>C | CA345558087 | NLRP3 | c.1905G>C (p.Met635Ile) c.1770G>C (p.Met590Ile) c.1911G>C (p.Met637Ile) n.2086G>C | |
1 | g.247425354G= | CA1232099079 | NLRP3 | c.1905G= (p.Met635=) c.1770G= (p.Met590=) c.1911G= (p.Met637=) n.2086G= | |
1 | g.247425354G>T | CA345558086 | NLRP3 | c.1905G>T (p.Met635Ile) c.1770G>T (p.Met590Ile) c.1911G>T (p.Met637Ile) n.2086G>T | |
1 | g.247425355C>A | CA345558088 | NLRP3 | c.1906C>A (p.Gln636Lys) c.1771C>A (p.Gln591Lys) c.1912C>A (p.Gln638Lys) n.2087C>A | |
1 | g.247425355C>G | CA345558090 | NLRP3 | c.1906C>G (p.Gln636Glu) c.1771C>G (p.Gln591Glu) c.1912C>G (p.Gln638Glu) n.2087C>G | |
1 | g.247425355C>T | CA345558089 | NLRP3 | c.1906C>T (p.Gln636Ter) c.1771C>T (p.Gln591Ter) c.1912C>T (p.Gln638Ter) n.2087C>T | gnomAD v4 |
1 | g.247425355_247425358delinsCAGG | CA1232099083 | NLRP3 | c.1906_1909delinsCAGG (p.Gln636=) c.1771_1774delinsCAGG (p.Gln591=) c.1912_1915delinsCAGG (p.Gln638=) n.2087_2090delinsCAGG | |
1 | g.247425356A= | CA1232099085 | NLRP3 | c.1907A= (p.Gln636=) c.1772A= (p.Gln591=) c.1913A= (p.Gln638=) n.2088A= | |
1 | g.247425356A>C | CA345558091 | NLRP3 | c.1907A>C (p.Gln636Pro) c.1772A>C (p.Gln591Pro) c.1913A>C (p.Gln638Pro) n.2088A>C | |
1 | g.247425356A>G | CA345558092 | NLRP3 | c.1907A>G (p.Gln636Arg) c.1772A>G (p.Gln591Arg) c.1913A>G (p.Gln638Arg) n.2088A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425356A>T | CA345558093 | NLRP3 | c.1907A>T (p.Gln636Leu) c.1772A>T (p.Gln591Leu) c.1913A>T (p.Gln638Leu) n.2088A>T | |
1 | g.247425363_247425365del | CA916451697 | NLRP3 | c.1914_1916del (p.Glu638del) c.1779_1781del (p.Glu593del) c.1920_1922del (p.Glu640del) n.2095_2097del | dbSNP |
1 | g.247425357G>A | CA1495083 | NLRP3 | c.1908G>A (p.Gln636=) c.1773G>A (p.Gln591=) c.1914G>A (p.Gln638=) n.2089G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425357G>C | CA345558094 | NLRP3 | c.1908G>C (p.Gln636His) c.1773G>C (p.Gln591His) c.1914G>C (p.Gln638His) n.2089G>C | |
1 | g.247425357G= | CA1232099090 | NLRP3 | c.1908G= (p.Gln636=) c.1773G= (p.Gln591=) c.1914G= (p.Gln638=) n.2089G= | |
1 | g.247425357G>T | CA345558095 | NLRP3 | c.1908G>T (p.Gln636His) c.1773G>T (p.Gln591His) c.1914G>T (p.Gln638His) n.2089G>T | |
1 | g.247425358G>A | CA345558096 | NLRP3 | c.1909G>A (p.Glu637Lys) c.1774G>A (p.Glu592Lys) c.1915G>A (p.Glu639Lys) n.2090G>A | |
1 | g.247425358G>C | CA345558097 | NLRP3 | c.1909G>C (p.Glu637Gln) c.1774G>C (p.Glu592Gln) c.1915G>C (p.Glu639Gln) n.2090G>C | dbSNP |
1 | g.247425358G= | CA1232099092 | NLRP3 | c.1909G= (p.Glu637=) c.1774G= (p.Glu592=) c.1915G= (p.Glu639=) n.2090G= | |
1 | g.247425358G>T | CA345558098 | NLRP3 | c.1909G>T (p.Glu637Ter) c.1774G>T (p.Glu592Ter) c.1915G>T (p.Glu639Ter) n.2090G>T | |
1 | g.247425359A>C | CA345558100 | NLRP3 | c.1910A>C (p.Glu637Ala) c.1775A>C (p.Glu592Ala) c.1916A>C (p.Glu639Ala) n.2091A>C | |
1 | g.247425359A>G | CA345558102 | NLRP3 | c.1910A>G (p.Glu637Gly) c.1775A>G (p.Glu592Gly) c.1916A>G (p.Glu639Gly) n.2091A>G | |
1 | g.247425359A>T | CA345558104 | NLRP3 | c.1910A>T (p.Glu637Val) c.1775A>T (p.Glu592Val) c.1916A>T (p.Glu639Val) n.2091A>T | |
1 | g.247425360G>A | CA424582958 | NLRP3 | c.1911G>A (p.Glu637=) c.1776G>A (p.Glu592=) c.1917G>A (p.Glu639=) n.2092G>A | gnomAD v4 |
1 | g.247425360G>C | CA345558105 | NLRP3 | c.1911G>C (p.Glu637Asp) c.1776G>C (p.Glu592Asp) c.1917G>C (p.Glu639Asp) n.2092G>C | |
1 | g.247425360G>T | CA345558107 | NLRP3 | c.1911G>T (p.Glu637Asp) c.1776G>T (p.Glu592Asp) c.1917G>T (p.Glu639Asp) n.2092G>T | |
1 | g.247425361G>A | CA345558110 | NLRP3 | c.1912G>A (p.Glu638Lys) c.1777G>A (p.Glu593Lys) c.1918G>A (p.Glu640Lys) n.2093G>A | ClinVar |
1 | g.247425361G>C | CA345558111 | NLRP3 | c.1912G>C (p.Glu638Gln) c.1777G>C (p.Glu593Gln) c.1918G>C (p.Glu640Gln) n.2093G>C | |
1 | g.247425361G>T | CA345558113 | NLRP3 | c.1912G>T (p.Glu638Ter) c.1777G>T (p.Glu593Ter) c.1918G>T (p.Glu640Ter) n.2093G>T | |
1 | g.247425362_247425372del | CA2574469071 | NLRP3 | c.1913_1923del (p.Glu638AlafsTer11) c.1778_1788del (p.Glu593AlafsTer11) c.1919_1929del (p.Glu640AlafsTer11) n.2094_2104del | |
1 | g.247425362A>C | CA345558115 | NLRP3 | c.1913A>C (p.Glu638Ala) c.1778A>C (p.Glu593Ala) c.1919A>C (p.Glu640Ala) n.2094A>C | |
1 | g.247425362A>G | CA345558117 | NLRP3 | c.1913A>G (p.Glu638Gly) c.1778A>G (p.Glu593Gly) c.1919A>G (p.Glu640Gly) n.2094A>G | |
1 | g.247425362A>T | CA345558119 | NLRP3 | c.1913A>T (p.Glu638Val) c.1778A>T (p.Glu593Val) c.1919A>T (p.Glu640Val) n.2094A>T | |
1 | g.247425363G>A | CA1495084 | NLRP3 | c.1914G>A (p.Glu638=) c.1779G>A (p.Glu593=) c.1920G>A (p.Glu640=) n.2095G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425363G>C | CA345558123 | NLRP3 | c.1914G>C (p.Glu638Asp) c.1779G>C (p.Glu593Asp) c.1920G>C (p.Glu640Asp) n.2095G>C | |
1 | g.247425363G= | CA1232099094 | NLRP3 | c.1914G= (p.Glu638=) c.1779G= (p.Glu593=) c.1920G= (p.Glu640=) n.2095G= | |
1 | g.247425363G>T | CA345558125 | NLRP3 | c.1914G>T (p.Glu638Asp) c.1779G>T (p.Glu593Asp) c.1920G>T (p.Glu640Asp) n.2095G>T | gnomAD v4 |
1 | g.247425364G>A | CA1495085 | NLRP3 | c.1915G>A (p.Asp639Asn) c.1780G>A (p.Asp594Asn) c.1921G>A (p.Asp641Asn) n.2096G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425364G>C | CA345558128 | NLRP3 | c.1915G>C (p.Asp639His) c.1780G>C (p.Asp594His) c.1921G>C (p.Asp641His) n.2096G>C | |
1 | g.247425364G= | CA1232099098 | NLRP3 | c.1915G= (p.Asp639=) c.1780G= (p.Asp594=) c.1921G= (p.Asp641=) n.2096G= | |
1 | g.247425364G>T | CA345558130 | NLRP3 | c.1915G>T (p.Asp639Tyr) c.1780G>T (p.Asp594Tyr) c.1921G>T (p.Asp641Tyr) n.2096G>T | |
1 | g.247425365A>C | CA345558135 | NLRP3 | c.1916A>C (p.Asp639Ala) c.1781A>C (p.Asp594Ala) c.1922A>C (p.Asp641Ala) n.2097A>C | |
1 | g.247425365A>G | CA345558132 | NLRP3 | c.1916A>G (p.Asp639Gly) c.1781A>G (p.Asp594Gly) c.1922A>G (p.Asp641Gly) n.2097A>G | |
1 | g.247425365A>T | CA345558134 | NLRP3 | c.1916A>T (p.Asp639Val) c.1781A>T (p.Asp594Val) c.1922A>T (p.Asp641Val) n.2097A>T | |
1 | g.247425366C>A | CA345558143 | NLRP3 | c.1917C>A (p.Asp639Glu) c.1782C>A (p.Asp594Glu) c.1923C>A (p.Asp641Glu) n.2098C>A | |
1 | g.247425366C>G | CA345558145 | NLRP3 | c.1917C>G (p.Asp639Glu) c.1782C>G (p.Asp594Glu) c.1923C>G (p.Asp641Glu) n.2098C>G | |
1 | g.247425366C>T | CA424582959 | NLRP3 | c.1917C>T (p.Asp639=) c.1782C>T (p.Asp594=) c.1923C>T (p.Asp641=) n.2098C>T | |
1 | g.247425367T>A | CA345558147 | NLRP3 | c.1918T>A (p.Phe640Ile) c.1783T>A (p.Phe595Ile) c.1924T>A (p.Phe642Ile) n.2099T>A | |
1 | g.247425367T>C | CA345558149 | NLRP3 | c.1918T>C (p.Phe640Leu) c.1783T>C (p.Phe595Leu) c.1924T>C (p.Phe642Leu) n.2099T>C | |
1 | g.247425367T>G | CA40692338 | NLRP3 | c.1918T>G (p.Phe640Val) c.1783T>G (p.Phe595Val) c.1924T>G (p.Phe642Val) n.2099T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425367T= | CA1232099106 | NLRP3 | c.1918T= (p.Phe640=) c.1783T= (p.Phe595=) c.1924T= (p.Phe642=) n.2099T= | |
1 | g.247425368T>A | CA345558156 | NLRP3 | c.1919T>A (p.Phe640Tyr) c.1784T>A (p.Phe595Tyr) c.1925T>A (p.Phe642Tyr) n.2100T>A | |
1 | g.247425368T>C | CA345558154 | NLRP3 | c.1919T>C (p.Phe640Ser) c.1784T>C (p.Phe595Ser) c.1925T>C (p.Phe642Ser) n.2100T>C | |
1 | g.247425368T>G | CA345558152 | NLRP3 | c.1919T>G (p.Phe640Cys) c.1784T>G (p.Phe595Cys) c.1925T>G (p.Phe642Cys) n.2100T>G | |
1 | g.247425369C>A | CA345558158 | NLRP3 | c.1920C>A (p.Phe640Leu) c.1785C>A (p.Phe595Leu) c.1926C>A (p.Phe642Leu) n.2101C>A | COSMIC |
1 | g.247425369C= | CA1140533888 | NLRP3 | c.1920C= (p.Phe640=) c.1785C= (p.Phe595=) c.1926C= (p.Phe642=) n.2101C= | |
1 | g.247425369C>G | CA345558160 | NLRP3 | c.1920C>G (p.Phe640Leu) c.1785C>G (p.Phe595Leu) c.1926C>G (p.Phe642Leu) n.2101C>G | gnomAD v4 |
1 | g.247425369C>T | CA292570 | NLRP3 | c.1920C>T (p.Phe640=) c.1785C>T (p.Phe595=) c.1926C>T (p.Phe642=) n.2101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425370G>A | CA345558161 | NLRP3 | c.1921G>A (p.Val641Met) c.1786G>A (p.Val596Met) c.1927G>A (p.Val643Met) n.2102G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425370G>C | CA345558163 | NLRP3 | c.1921G>C (p.Val641Leu) c.1786G>C (p.Val596Leu) c.1927G>C (p.Val643Leu) n.2102G>C | gnomAD v4 |
1 | g.247425370G= | CA1232099116 | NLRP3 | c.1921G= (p.Val641=) c.1786G= (p.Val596=) c.1927G= (p.Val643=) n.2102G= | |
1 | g.247425370G>T | CA345558165 | NLRP3 | c.1921G>T (p.Val641Leu) c.1786G>T (p.Val596Leu) c.1927G>T (p.Val643Leu) n.2102G>T | gnomAD v4 |
1 | g.247425371T>A | CA345558168 | NLRP3 | c.1922T>A (p.Val641Glu) c.1787T>A (p.Val596Glu) c.1928T>A (p.Val643Glu) n.2103T>A | |
1 | g.247425371T>C | CA345558172 | NLRP3 | c.1922T>C (p.Val641Ala) c.1787T>C (p.Val596Ala) c.1928T>C (p.Val643Ala) n.2103T>C | |
1 | g.247425371T>G | CA345558170 | NLRP3 | c.1922T>G (p.Val641Gly) c.1787T>G (p.Val596Gly) c.1928T>G (p.Val643Gly) n.2103T>G | |
1 | g.247425372G>A | CA424582960 | NLRP3 | c.1923G>A (p.Val641=) c.1788G>A (p.Val596=) c.1929G>A (p.Val643=) n.2104G>A | gnomAD v4 |
1 | g.247425372G>C | CA424582962 | NLRP3 | c.1923G>C (p.Val641=) c.1788G>C (p.Val596=) c.1929G>C (p.Val643=) n.2104G>C | |
1 | g.247425372G>T | CA424582961 | NLRP3 | c.1923G>T (p.Val641=) c.1788G>T (p.Val596=) c.1929G>T (p.Val643=) n.2104G>T | |
1 | g.247425373C>A | CA345558174 | NLRP3 | c.1924C>A (p.Gln642Lys) c.1789C>A (p.Gln597Lys) c.1930C>A (p.Gln644Lys) n.2105C>A | |
1 | g.247425373C>G | CA345558176 | NLRP3 | c.1924C>G (p.Gln642Glu) c.1789C>G (p.Gln597Glu) c.1930C>G (p.Gln644Glu) n.2105C>G | |
1 | g.247425373C>T | CA345558177 | NLRP3 | c.1924C>T (p.Gln642Ter) c.1789C>T (p.Gln597Ter) c.1930C>T (p.Gln644Ter) n.2105C>T | |
1 | g.247425374A>C | CA345558179 | NLRP3 | c.1925A>C (p.Gln642Pro) c.1790A>C (p.Gln597Pro) c.1931A>C (p.Gln644Pro) n.2106A>C | |
1 | g.247425374A>G | CA345558180 | NLRP3 | c.1925A>G (p.Gln642Arg) c.1790A>G (p.Gln597Arg) c.1931A>G (p.Gln644Arg) n.2106A>G | |
1 | g.247425374A>T | CA345558182 | NLRP3 | c.1925A>T (p.Gln642Leu) c.1790A>T (p.Gln597Leu) c.1931A>T (p.Gln644Leu) n.2106A>T | |
1 | g.247425375A>C | CA345558185 | NLRP3 | c.1926A>C (p.Gln642His) c.1791A>C (p.Gln597His) c.1932A>C (p.Gln644His) n.2107A>C | |
1 | g.247425375A>G | CA424582963 | NLRP3 | c.1926A>G (p.Gln642=) c.1791A>G (p.Gln597=) c.1932A>G (p.Gln644=) n.2107A>G | |
1 | g.247425375A>T | CA345558187 | NLRP3 | c.1926A>T (p.Gln642His) c.1791A>T (p.Gln597His) c.1932A>T (p.Gln644His) n.2107A>T | |
1 | g.247425376A= | CA1232099118 | NLRP3 | c.1927A= (p.Arg643=) c.1792A= (p.Arg598=) c.1933A= (p.Arg645=) n.2108A= | |
1 | g.247425376A>C | CA1495086 | NLRP3 | c.1927A>C (p.Arg643=) c.1792A>C (p.Arg598=) c.1933A>C (p.Arg645=) n.2108A>C | dbSNP ExAC gnomAD v2 |
1 | g.247425376A>G | CA345558189 | NLRP3 | c.1927A>G (p.Arg643Gly) c.1792A>G (p.Arg598Gly) c.1933A>G (p.Arg645Gly) n.2108A>G | |
1 | g.247425376A>T | CA345558190 | NLRP3 | c.1927A>T (p.Arg643Trp) c.1792A>T (p.Arg598Trp) c.1933A>T (p.Arg645Trp) n.2108A>T | |
1 | g.247425377G>A | CA1495087 | NLRP3 | c.1928G>A (p.Arg643Lys) c.1793G>A (p.Arg598Lys) c.1934G>A (p.Arg645Lys) n.2109G>A | dbSNP ExAC gnomAD v2 |
1 | g.247425377G>C | CA345558192 | NLRP3 | c.1928G>C (p.Arg643Thr) c.1793G>C (p.Arg598Thr) c.1934G>C (p.Arg645Thr) n.2109G>C | |
1 | g.247425377G= | CA1232099120 | NLRP3 | c.1928G= (p.Arg643=) c.1793G= (p.Arg598=) c.1934G= (p.Arg645=) n.2109G= | |
1 | g.247425377G>T | CA345558191 | NLRP3 | c.1928G>T (p.Arg643Met) c.1793G>T (p.Arg598Met) c.1934G>T (p.Arg645Met) n.2109G>T | |
1 | g.247425378G>A | CA424582964 | NLRP3 | c.1929G>A (p.Arg643=) c.1794G>A (p.Arg598=) c.1935G>A (p.Arg645=) n.2110G>A | gnomAD v4 |
1 | g.247425378G>C | CA345558193 | NLRP3 | c.1929G>C (p.Arg643Ser) c.1794G>C (p.Arg598Ser) c.1935G>C (p.Arg645Ser) n.2110G>C | gnomAD v4 |
1 | g.247425378G>T | CA345558194 | NLRP3 | c.1929G>T (p.Arg643Ser) c.1794G>T (p.Arg598Ser) c.1935G>T (p.Arg645Ser) n.2110G>T | |
1 | g.247425379G>A | CA1495088 | NLRP3 | c.1930G>A (p.Ala644Thr) c.1795G>A (p.Ala599Thr) c.1936G>A (p.Ala646Thr) n.2111G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425379G>C | CA345558195 | NLRP3 | c.1930G>C (p.Ala644Pro) c.1795G>C (p.Ala599Pro) c.1936G>C (p.Ala646Pro) n.2111G>C | |
1 | g.247425379G= | CA1232099123 | NLRP3 | c.1930G= (p.Ala644=) c.1795G= (p.Ala599=) c.1936G= (p.Ala646=) n.2111G= | |
1 | g.247425379G>T | CA345558196 | NLRP3 | c.1930G>T (p.Ala644Ser) c.1795G>T (p.Ala599Ser) c.1936G>T (p.Ala646Ser) n.2111G>T | |
1 | g.247425380C>A | CA345558197 | NLRP3 | c.1931C>A (p.Ala644Asp) c.1796C>A (p.Ala599Asp) c.1937C>A (p.Ala646Asp) n.2112C>A | COSMIC |
1 | g.247425380C>G | CA345558198 | NLRP3 | c.1931C>G (p.Ala644Gly) c.1796C>G (p.Ala599Gly) c.1937C>G (p.Ala646Gly) n.2112C>G | |
1 | g.247425380C>T | CA345558200 | NLRP3 | c.1931C>T (p.Ala644Val) c.1796C>T (p.Ala599Val) c.1937C>T (p.Ala646Val) n.2112C>T | |
1 | g.247425381C>A | CA40692339 | NLRP3 | c.1932C>A (p.Ala644=) c.1797C>A (p.Ala599=) c.1938C>A (p.Ala646=) n.2113C>A | dbSNP |
1 | g.247425381C= | CA1143496724 | NLRP3 | c.1932C= (p.Ala644=) c.1797C= (p.Ala599=) c.1938C= (p.Ala646=) n.2113C= | |
1 | g.247425381C>G | CA424582965 | NLRP3 | c.1932C>G (p.Ala644=) c.1797C>G (p.Ala599=) c.1938C>G (p.Ala646=) n.2113C>G | |
1 | g.247425381C>T | CA424582966 | NLRP3 | c.1932C>T (p.Ala644=) c.1797C>T (p.Ala599=) c.1938C>T (p.Ala646=) n.2113C>T | |
1 | g.247425382A= | CA1148227756 | NLRP3 | c.1933A= (p.Met645=) c.1798A= (p.Met600=) c.1939A= (p.Met647=) n.2114A= | |
1 | g.247425382A>C | CA345558203 | NLRP3 | c.1933A>C (p.Met645Leu) c.1798A>C (p.Met600Leu) c.1939A>C (p.Met647Leu) n.2114A>C | gnomAD v4 |
1 | g.247425382A>G | CA1495089 | NLRP3 | c.1933A>G (p.Met645Val) c.1798A>G (p.Met600Val) c.1939A>G (p.Met647Val) n.2114A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425382A>T | CA345558205 | NLRP3 | c.1933A>T (p.Met645Leu) c.1798A>T (p.Met600Leu) c.1939A>T (p.Met647Leu) n.2114A>T | |
1 | g.247425383T>A | CA345558211 | NLRP3 | c.1934T>A (p.Met645Lys) c.1799T>A (p.Met600Lys) c.1940T>A (p.Met647Lys) n.2115T>A | |
1 | g.247425383T>C | CA345558209 | NLRP3 | c.1934T>C (p.Met645Thr) c.1799T>C (p.Met600Thr) c.1940T>C (p.Met647Thr) n.2115T>C | COSMIC |
1 | g.247425383T>G | CA345558208 | NLRP3 | c.1934T>G (p.Met645Arg) c.1799T>G (p.Met600Arg) c.1940T>G (p.Met647Arg) n.2115T>G | |
1 | g.247425384G>A | CA345558214 | NLRP3 | c.1935G>A (p.Met645Ile) c.1800G>A (p.Met600Ile) c.1941G>A (p.Met647Ile) n.2116G>A | |
1 | g.247425384G>C | CA345558215 | NLRP3 | c.1935G>C (p.Met645Ile) c.1800G>C (p.Met600Ile) c.1941G>C (p.Met647Ile) n.2116G>C | |
1 | g.247425384G>T | CA345558216 | NLRP3 | c.1935G>T (p.Met645Ile) c.1800G>T (p.Met600Ile) c.1941G>T (p.Met647Ile) n.2116G>T | |
1 | g.247425385G>A | CA345558219 | NLRP3 | c.1936G>A (p.Asp646Asn) c.1801G>A (p.Asp601Asn) c.1942G>A (p.Asp648Asn) n.2117G>A | |
1 | g.247425385G>C | CA345558220 | NLRP3 | c.1936G>C (p.Asp646His) c.1801G>C (p.Asp601His) c.1942G>C (p.Asp648His) n.2117G>C | |
1 | g.247425385G= | CA1141594385 | NLRP3 | c.1936G= (p.Asp646=) c.1801G= (p.Asp601=) c.1942G= (p.Asp648=) n.2117G= | |
1 | g.247425385G>T | CA1495090 | NLRP3 | c.1936G>T (p.Asp646Tyr) c.1801G>T (p.Asp601Tyr) c.1942G>T (p.Asp648Tyr) n.2117G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425386A= | CA1232099138 | NLRP3 | c.1937A= (p.Asp646=) c.1802A= (p.Asp601=) c.1943A= (p.Asp648=) n.2118A= | |
1 | g.247425386A>C | CA345558223 | NLRP3 | c.1937A>C (p.Asp646Ala) c.1802A>C (p.Asp601Ala) c.1943A>C (p.Asp648Ala) n.2118A>C | gnomAD v4 |
1 | g.247425386A>G | CA345558224 | NLRP3 | c.1937A>G (p.Asp646Gly) c.1802A>G (p.Asp601Gly) c.1943A>G (p.Asp648Gly) n.2118A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425386A>T | CA345558226 | NLRP3 | c.1937A>T (p.Asp646Val) c.1802A>T (p.Asp601Val) c.1943A>T (p.Asp648Val) n.2118A>T | gnomAD v4 |
1 | g.247425387C>A | CA345558228 | NLRP3 | c.1938C>A (p.Asp646Glu) c.1803C>A (p.Asp601Glu) c.1944C>A (p.Asp648Glu) n.2119C>A | |
1 | g.247425387C>G | CA345558230 | NLRP3 | c.1938C>G (p.Asp646Glu) c.1803C>G (p.Asp601Glu) c.1944C>G (p.Asp648Glu) n.2119C>G | gnomAD v4 |
1 | g.247425387C>T | CA424582967 | NLRP3 | c.1938C>T (p.Asp646=) c.1803C>T (p.Asp601=) c.1944C>T (p.Asp648=) n.2119C>T | gnomAD v4 |
1 | g.247425388T>A | CA345558234 | NLRP3 | c.1939T>A (p.Tyr647Asn) c.1804T>A (p.Tyr602Asn) c.1945T>A (p.Tyr649Asn) n.2120T>A | ClinVar dbSNP COSMIC |
1 | g.247425388T>C | CA345558237 | NLRP3 | c.1939T>C (p.Tyr647His) c.1804T>C (p.Tyr602His) c.1945T>C (p.Tyr649His) n.2120T>C | gnomAD v4 |
1 | g.247425388T>G | CA345558233 | NLRP3 | c.1939T>G (p.Tyr647Asp) c.1804T>G (p.Tyr602Asp) c.1945T>G (p.Tyr649Asp) n.2120T>G | |
1 | g.247425389_247425390dup | CA2651421393 | NLRP3 | c.1940_1941dup (p.Phe648IlefsTer?) c.1805_1806dup (p.Phe603IlefsTer?) c.1946_1947dup (p.Phe650IlefsTer?) n.2121_2122dup | gnomAD v4 |
1 | g.247425389A>C | CA345558239 | NLRP3 | c.1940A>C (p.Tyr647Ser) c.1805A>C (p.Tyr602Ser) c.1946A>C (p.Tyr649Ser) n.2121A>C | |
1 | g.247425389A>G | CA345558241 | NLRP3 | c.1940A>G (p.Tyr647Cys) c.1805A>G (p.Tyr602Cys) c.1946A>G (p.Tyr649Cys) n.2121A>G | gnomAD v4 |
1 | g.247425389A>T | CA345558243 | NLRP3 | c.1940A>T (p.Tyr647Phe) c.1805A>T (p.Tyr602Phe) c.1946A>T (p.Tyr649Phe) n.2121A>T | |
1 | g.247425390T>A | CA345558245 | NLRP3 | c.1941T>A (p.Tyr647Ter) c.1806T>A (p.Tyr602Ter) c.1947T>A (p.Tyr649Ter) n.2122T>A | |
1 | g.247425390T>C | CA424582968 | NLRP3 | c.1941T>C (p.Tyr647=) c.1806T>C (p.Tyr602=) c.1947T>C (p.Tyr649=) n.2122T>C | dbSNP |
1 | g.247425390T>G | CA345558247 | NLRP3 | c.1941T>G (p.Tyr647Ter) c.1806T>G (p.Tyr602Ter) c.1947T>G (p.Tyr649Ter) n.2122T>G | |
1 | g.247425390T= | CA1232099139 | NLRP3 | c.1941T= (p.Tyr647=) c.1806T= (p.Tyr602=) c.1947T= (p.Tyr649=) n.2122T= | |
1 | g.247425391T>A | CA345558253 | NLRP3 | c.1942T>A (p.Phe648Ile) c.1807T>A (p.Phe603Ile) c.1948T>A (p.Phe650Ile) n.2123T>A | |
1 | g.247425391T>C | CA345558249 | NLRP3 | c.1942T>C (p.Phe648Leu) c.1807T>C (p.Phe603Leu) c.1948T>C (p.Phe650Leu) n.2123T>C | |
1 | g.247425391T>G | CA345558251 | NLRP3 | c.1942T>G (p.Phe648Val) c.1807T>G (p.Phe603Val) c.1948T>G (p.Phe650Val) n.2123T>G | |
1 | g.247425392T>A | CA345558255 | NLRP3 | c.1943T>A (p.Phe648Tyr) c.1808T>A (p.Phe603Tyr) c.1949T>A (p.Phe650Tyr) n.2124T>A | |
1 | g.247425392T>C | CA345558257 | NLRP3 | c.1943T>C (p.Phe648Ser) c.1808T>C (p.Phe603Ser) c.1949T>C (p.Phe650Ser) n.2124T>C | |
1 | g.247425392T>G | CA345558259 | NLRP3 | c.1943T>G (p.Phe648Cys) c.1808T>G (p.Phe603Cys) c.1949T>G (p.Phe650Cys) n.2124T>G | |
1 | g.247425393C>A | CA345558261 | NLRP3 | c.1944C>A (p.Phe648Leu) c.1809C>A (p.Phe603Leu) c.1950C>A (p.Phe650Leu) n.2125C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425393C= | CA1232099140 | NLRP3 | c.1944C= (p.Phe648=) c.1809C= (p.Phe603=) c.1950C= (p.Phe650=) n.2125C= | |
1 | g.247425393C>G | CA345558262 | NLRP3 | c.1944C>G (p.Phe648Leu) c.1809C>G (p.Phe603Leu) c.1950C>G (p.Phe650Leu) n.2125C>G | |
1 | g.247425393C>T | CA424582969 | NLRP3 | c.1944C>T (p.Phe648=) c.1809C>T (p.Phe603=) c.1950C>T (p.Phe650=) n.2125C>T | COSMIC |
1 | g.247425394C>A | CA345558263 | NLRP3 | c.1945C>A (p.Pro649Thr) c.1810C>A (p.Pro604Thr) c.1951C>A (p.Pro651Thr) n.2126C>A | |
1 | g.247425394C>G | CA345558266 | NLRP3 | c.1945C>G (p.Pro649Ala) c.1810C>G (p.Pro604Ala) c.1951C>G (p.Pro651Ala) n.2126C>G | |
1 | g.247425394C>T | CA345558265 | NLRP3 | c.1945C>T (p.Pro649Ser) c.1810C>T (p.Pro604Ser) c.1951C>T (p.Pro651Ser) n.2126C>T | gnomAD v4 COSMIC |
1 | g.247425395C>A | CA345558267 | NLRP3 | c.1946C>A (p.Pro649His) c.1811C>A (p.Pro604His) c.1952C>A (p.Pro651His) n.2127C>A | COSMIC |
1 | g.247425395C= | CA1232099144 | NLRP3 | c.1946C= (p.Pro649=) c.1811C= (p.Pro604=) c.1952C= (p.Pro651=) n.2127C= | |
1 | g.247425395C>G | CA345558269 | NLRP3 | c.1946C>G (p.Pro649Arg) c.1811C>G (p.Pro604Arg) c.1952C>G (p.Pro651Arg) n.2127C>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425395C>T | CA345558272 | NLRP3 | c.1946C>T (p.Pro649Leu) c.1811C>T (p.Pro604Leu) c.1952C>T (p.Pro651Leu) n.2127C>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425396C>A | CA424582970 | NLRP3 | c.1947C>A (p.Pro649=) c.1812C>A (p.Pro604=) c.1953C>A (p.Pro651=) n.2128C>A | |
1 | g.247425396C= | CA1232099148 | NLRP3 | c.1947C= (p.Pro649=) c.1812C= (p.Pro604=) c.1953C= (p.Pro651=) n.2128C= | |
1 | g.247425396C>G | CA1495091 | NLRP3 | c.1947C>G (p.Pro649=) c.1812C>G (p.Pro604=) c.1953C>G (p.Pro651=) n.2128C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425396C>T | CA424582971 | NLRP3 | c.1947C>T (p.Pro649=) c.1812C>T (p.Pro604=) c.1953C>T (p.Pro651=) n.2128C>T | ClinVar |
1 | g.247425397A= | CA1148403817 | NLRP3 | c.1948A= (p.Lys650=) c.1813A= (p.Lys605=) c.1954A= (p.Lys652=) n.2129A= | |
1 | g.247425397A>C | CA345558275 | NLRP3 | c.1948A>C (p.Lys650Gln) c.1813A>C (p.Lys605Gln) c.1954A>C (p.Lys652Gln) n.2129A>C | |
1 | g.247425397A>G | CA1495092 | NLRP3 | c.1948A>G (p.Lys650Glu) c.1813A>G (p.Lys605Glu) c.1954A>G (p.Lys652Glu) n.2129A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425397A>T | CA345558278 | NLRP3 | c.1948A>T (p.Lys650Ter) c.1813A>T (p.Lys605Ter) c.1954A>T (p.Lys652Ter) n.2129A>T | |
1 | g.247425398A= | CA1232099153 | NLRP3 | c.1949A= (p.Lys650=) c.1814A= (p.Lys605=) c.1955A= (p.Lys652=) n.2130A= | |
1 | g.247425398A>C | CA345558280 | NLRP3 | c.1949A>C (p.Lys650Thr) c.1814A>C (p.Lys605Thr) c.1955A>C (p.Lys652Thr) n.2130A>C | |
1 | g.247425398A>G | CA345558282 | NLRP3 | c.1949A>G (p.Lys650Arg) c.1814A>G (p.Lys605Arg) c.1955A>G (p.Lys652Arg) n.2130A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425398A>T | CA345558284 | NLRP3 | c.1949A>T (p.Lys650Met) c.1814A>T (p.Lys605Met) c.1955A>T (p.Lys652Met) n.2130A>T | |
1 | g.247425399G>A | CA424582972 | NLRP3 | c.1950G>A (p.Lys650=) c.1815G>A (p.Lys605=) c.1956G>A (p.Lys652=) n.2131G>A | COSMIC |
1 | g.247425399G>C | CA345558286 | NLRP3 | c.1950G>C (p.Lys650Asn) c.1815G>C (p.Lys605Asn) c.1956G>C (p.Lys652Asn) n.2131G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425399G= | CA1232099156 | NLRP3 | c.1950G= (p.Lys650=) c.1815G= (p.Lys605=) c.1956G= (p.Lys652=) n.2131G= | |
1 | g.247425399G>T | CA345558288 | NLRP3 | c.1950G>T (p.Lys650Asn) c.1815G>T (p.Lys605Asn) c.1956G>T (p.Lys652Asn) n.2131G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425400A>C | CA345558292 | NLRP3 | c.1951A>C (p.Ile651Leu) c.1816A>C (p.Ile606Leu) c.1957A>C (p.Ile653Leu) n.2132A>C | |
1 | g.247425400A>G | CA345558294 | NLRP3 | c.1951A>G (p.Ile651Val) c.1816A>G (p.Ile606Val) c.1957A>G (p.Ile653Val) n.2132A>G | gnomAD v4 |
1 | g.247425400A>T | CA345558290 | NLRP3 | c.1951A>T (p.Ile651Phe) c.1816A>T (p.Ile606Phe) c.1957A>T (p.Ile653Phe) n.2132A>T | |
1 | g.247425401T>A | CA345558297 | NLRP3 | c.1952T>A (p.Ile651Asn) c.1817T>A (p.Ile606Asn) c.1958T>A (p.Ile653Asn) n.2133T>A | |
1 | g.247425401T>C | CA345558295 | NLRP3 | c.1952T>C (p.Ile651Thr) c.1817T>C (p.Ile606Thr) c.1958T>C (p.Ile653Thr) n.2133T>C | ClinVar |
1 | g.247425401T>G | CA345558299 | NLRP3 | c.1952T>G (p.Ile651Ser) c.1817T>G (p.Ile606Ser) c.1958T>G (p.Ile653Ser) n.2133T>G | |
1 | g.247425402T>A | CA424582973 | NLRP3 | c.1953T>A (p.Ile651=) c.1818T>A (p.Ile606=) c.1959T>A (p.Ile653=) n.2134T>A | |
1 | g.247425402T>C | CA424582974 | NLRP3 | c.1953T>C (p.Ile651=) c.1818T>C (p.Ile606=) c.1959T>C (p.Ile653=) n.2134T>C | dbSNP |
1 | g.247425402T>G | CA345558301 | NLRP3 | c.1953T>G (p.Ile651Met) c.1818T>G (p.Ile606Met) c.1959T>G (p.Ile653Met) n.2134T>G | gnomAD v4 |
1 | g.247425403G>A | CA1495093 | NLRP3 | c.1954G>A (p.Glu652Lys) c.1819G>A (p.Glu607Lys) c.1960G>A (p.Glu654Lys) n.2135G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.247425403G>C | CA345558304 | NLRP3 | c.1954G>C (p.Glu652Gln) c.1819G>C (p.Glu607Gln) c.1960G>C (p.Glu654Gln) n.2135G>C | |
1 | g.247425403G= | CA1232099158 | NLRP3 | c.1954G= (p.Glu652=) c.1819G= (p.Glu607=) c.1960G= (p.Glu654=) n.2135G= | |
1 | g.247425403G>T | CA345558305 | NLRP3 | c.1954G>T (p.Glu652Ter) c.1819G>T (p.Glu607Ter) c.1960G>T (p.Glu654Ter) n.2135G>T | dbSNP |
1 | g.247425404A>C | CA345558308 | NLRP3 | c.1955A>C (p.Glu652Ala) c.1820A>C (p.Glu607Ala) c.1961A>C (p.Glu654Ala) n.2136A>C | |
1 | g.247425404A>G | CA345558310 | NLRP3 | c.1955A>G (p.Glu652Gly) c.1820A>G (p.Glu607Gly) c.1961A>G (p.Glu654Gly) n.2136A>G | |
1 | g.247425404A>T | CA345558311 | NLRP3 | c.1955A>T (p.Glu652Val) c.1820A>T (p.Glu607Val) c.1961A>T (p.Glu654Val) n.2136A>T | |
1 | g.247425405G>A | CA424582975 | NLRP3 | c.1956G>A (p.Glu652=) c.1821G>A (p.Glu607=) c.1962G>A (p.Glu654=) n.2137G>A | |
1 | g.247425405G>C | CA345558314 | NLRP3 | c.1956G>C (p.Glu652Asp) c.1821G>C (p.Glu607Asp) c.1962G>C (p.Glu654Asp) n.2137G>C | |
1 | g.247425405G>T | CA345558316 | NLRP3 | c.1956G>T (p.Glu652Asp) c.1821G>T (p.Glu607Asp) c.1962G>T (p.Glu654Asp) n.2137G>T | |
1 | g.247425406A= | CA1232099160 | NLRP3 | c.1957A= (p.Ile653=) c.1822A= (p.Ile608=) c.1963A= (p.Ile655=) n.2138A= | |
1 | g.247425406A>C | CA345558318 | NLRP3 | c.1957A>C (p.Ile653Leu) c.1822A>C (p.Ile608Leu) c.1963A>C (p.Ile655Leu) n.2138A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425406A>G | CA345558320 | NLRP3 | c.1957A>G (p.Ile653Val) c.1822A>G (p.Ile608Val) c.1963A>G (p.Ile655Val) n.2138A>G | |
1 | g.247425406A>T | CA345558322 | NLRP3 | c.1957A>T (p.Ile653Phe) c.1822A>T (p.Ile608Phe) c.1963A>T (p.Ile655Phe) n.2138A>T | |
1 | g.247425407T>A | CA345558327 | NLRP3 | c.1958T>A (p.Ile653Asn) c.1823T>A (p.Ile608Asn) c.1964T>A (p.Ile655Asn) n.2139T>A | |
1 | g.247425407T>C | CA40692365 | NLRP3 | c.1958T>C (p.Ile653Thr) c.1823T>C (p.Ile608Thr) c.1964T>C (p.Ile655Thr) n.2139T>C | dbSNP |
1 | g.247425407T>G | CA345558325 | NLRP3 | c.1958T>G (p.Ile653Ser) c.1823T>G (p.Ile608Ser) c.1964T>G (p.Ile655Ser) n.2139T>G | |
1 | g.247425407T= | CA1143461580 | NLRP3 | c.1958T= (p.Ile653=) c.1823T= (p.Ile608=) c.1964T= (p.Ile655=) n.2139T= | |
1 | g.247425408C>A | CA424582976 | NLRP3 | c.1959C>A (p.Ile653=) c.1824C>A (p.Ile608=) c.1965C>A (p.Ile655=) n.2140C>A | |
1 | g.247425408C= | CA1232099162 | NLRP3 | c.1959C= (p.Ile653=) c.1824C= (p.Ile608=) c.1965C= (p.Ile655=) n.2140C= | |
1 | g.247425408C>G | CA345558329 | NLRP3 | c.1959C>G (p.Ile653Met) c.1824C>G (p.Ile608Met) c.1965C>G (p.Ile655Met) n.2140C>G | |
1 | g.247425408C>T | CA424582977 | NLRP3 | c.1959C>T (p.Ile653=) c.1824C>T (p.Ile608=) c.1965C>T (p.Ile655=) n.2140C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425409A>C | CA345558331 | NLRP3 | c.1960A>C (p.Asn654His) c.1825A>C (p.Asn609His) c.1966A>C (p.Asn656His) n.2141A>C | |
1 | g.247425409A>G | CA345558333 | NLRP3 | c.1960A>G (p.Asn654Asp) c.1825A>G (p.Asn609Asp) c.1966A>G (p.Asn656Asp) n.2141A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425409A>T | CA345558335 | NLRP3 | c.1960A>T (p.Asn654Tyr) c.1825A>T (p.Asn609Tyr) c.1966A>T (p.Asn656Tyr) n.2141A>T | |
1 | g.247425410A= | CA1232099166 | NLRP3 | c.1961A= (p.Asn654=) c.1826A= (p.Asn609=) c.1967A= (p.Asn656=) n.2142A= | |
1 | g.247425410A>C | CA345558338 | NLRP3 | c.1961A>C (p.Asn654Thr) c.1826A>C (p.Asn609Thr) c.1967A>C (p.Asn656Thr) n.2142A>C | |
1 | g.247425410A>G | CA345558339 | NLRP3 | c.1961A>G (p.Asn654Ser) c.1826A>G (p.Asn609Ser) c.1967A>G (p.Asn656Ser) n.2142A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425410A>T | CA345558340 | NLRP3 | c.1961A>T (p.Asn654Ile) c.1826A>T (p.Asn609Ile) c.1967A>T (p.Asn656Ile) n.2142A>T | |
1 | g.247425411T>A | CA345558341 | NLRP3 | c.1962T>A (p.Asn654Lys) c.1827T>A (p.Asn609Lys) c.1968T>A (p.Asn656Lys) n.2143T>A | |
1 | g.247425411T>C | CA40692369 | NLRP3 | c.1962T>C (p.Asn654=) c.1827T>C (p.Asn609=) c.1968T>C (p.Asn656=) n.2143T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425411T>G | CA345558342 | NLRP3 | c.1962T>G (p.Asn654Lys) c.1827T>G (p.Asn609Lys) c.1968T>G (p.Asn656Lys) n.2143T>G | |
1 | g.247425411T= | CA1232099168 | NLRP3 | c.1962T= (p.Asn654=) c.1827T= (p.Asn609=) c.1968T= (p.Asn656=) n.2143T= | |
1 | g.247425412C>A | CA345558343 | NLRP3 | c.1963C>A (p.Leu655Ile) c.1828C>A (p.Leu610Ile) c.1969C>A (p.Leu657Ile) n.2144C>A | |
1 | g.247425412C>G | CA345558344 | NLRP3 | c.1963C>G (p.Leu655Val) c.1828C>G (p.Leu610Val) c.1969C>G (p.Leu657Val) n.2144C>G | gnomAD v4 |
1 | g.247425412C>T | CA345558345 | NLRP3 | c.1963C>T (p.Leu655Phe) c.1828C>T (p.Leu610Phe) c.1969C>T (p.Leu657Phe) n.2144C>T | gnomAD v4 |
1 | g.247425413T>A | CA345558351 | NLRP3 | c.1964T>A (p.Leu655His) c.1829T>A (p.Leu610His) c.1970T>A (p.Leu657His) n.2145T>A | |
1 | g.247425413T>C | CA345558349 | NLRP3 | c.1964T>C (p.Leu655Pro) c.1829T>C (p.Leu610Pro) c.1970T>C (p.Leu657Pro) n.2145T>C | |
1 | g.247425413T>G | CA345558347 | NLRP3 | c.1964T>G (p.Leu655Arg) c.1829T>G (p.Leu610Arg) c.1970T>G (p.Leu657Arg) n.2145T>G | |
1 | g.247425414C>A | CA424582979 | NLRP3 | c.1965C>A (p.Leu655=) c.1830C>A (p.Leu610=) c.1971C>A (p.Leu657=) n.2146C>A | |
1 | g.247425414C= | CA1144021753 | NLRP3 | c.1965C= (p.Leu655=) c.1830C= (p.Leu610=) c.1971C= (p.Leu657=) n.2146C= | |
1 | g.247425414C>G | CA40692379 | NLRP3 | c.1965C>G (p.Leu655=) c.1830C>G (p.Leu610=) c.1971C>G (p.Leu657=) n.2146C>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425414C>T | CA424582978 | NLRP3 | c.1965C>T (p.Leu655=) c.1830C>T (p.Leu610=) c.1971C>T (p.Leu657=) n.2146C>T | dbSNP gnomAD v4 |
1 | g.247425415T>A | CA1495094 | NLRP3 | c.1966T>A (p.Ser656Thr) c.1831T>A (p.Ser611Thr) c.1972T>A (p.Ser658Thr) n.2147T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425415T>C | CA345558355 | NLRP3 | c.1966T>C (p.Ser656Pro) c.1831T>C (p.Ser611Pro) c.1972T>C (p.Ser658Pro) n.2147T>C | gnomAD v4 |
1 | g.247425415T>G | CA345558357 | NLRP3 | c.1966T>G (p.Ser656Ala) c.1831T>G (p.Ser611Ala) c.1972T>G (p.Ser658Ala) n.2147T>G | |
1 | g.247425415T= | CA1232099174 | NLRP3 | c.1966T= (p.Ser656=) c.1831T= (p.Ser611=) c.1972T= (p.Ser658=) n.2147T= | |
1 | g.247425416C>A | CA345558359 | NLRP3 | c.1967C>A (p.Ser656Tyr) c.1832C>A (p.Ser611Tyr) c.1973C>A (p.Ser658Tyr) n.2148C>A | |
1 | g.247425416C>G | CA345558365 | NLRP3 | c.1967C>G (p.Ser656Cys) c.1832C>G (p.Ser611Cys) c.1973C>G (p.Ser658Cys) n.2148C>G | |
1 | g.247425416C>T | CA345558367 | NLRP3 | c.1967C>T (p.Ser656Phe) c.1832C>T (p.Ser611Phe) c.1973C>T (p.Ser658Phe) n.2148C>T | |
1 | g.247425417C>A | CA424582980 | NLRP3 | c.1968C>A (p.Ser656=) c.1833C>A (p.Ser611=) c.1974C>A (p.Ser658=) n.2149C>A | |
1 | g.247425417C= | CA1232099177 | NLRP3 | c.1968C= (p.Ser656=) c.1833C= (p.Ser611=) c.1974C= (p.Ser658=) n.2149C= | |
1 | g.247425417C>G | CA424582981 | NLRP3 | c.1968C>G (p.Ser656=) c.1833C>G (p.Ser611=) c.1974C>G (p.Ser658=) n.2149C>G | |
1 | g.247425417C>T | CA1495095 | NLRP3 | c.1968C>T (p.Ser656=) c.1833C>T (p.Ser611=) c.1974C>T (p.Ser658=) n.2149C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425418A>C | CA345558368 | NLRP3 | c.1969A>C (p.Thr657Pro) c.1834A>C (p.Thr612Pro) c.1975A>C (p.Thr659Pro) n.2150A>C | |
1 | g.247425418A>G | CA345558369 | NLRP3 | c.1969A>G (p.Thr657Ala) c.1834A>G (p.Thr612Ala) c.1975A>G (p.Thr659Ala) n.2150A>G | |
1 | g.247425418A>T | CA345558370 | NLRP3 | c.1969A>T (p.Thr657Ser) c.1834A>T (p.Thr612Ser) c.1975A>T (p.Thr659Ser) n.2150A>T | |
1 | g.247425419C>A | CA345558371 | NLRP3 | c.1970C>A (p.Thr657Asn) c.1835C>A (p.Thr612Asn) c.1976C>A (p.Thr659Asn) n.2151C>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.247425419C= | CA1143511984 | NLRP3 | c.1970C= (p.Thr657=) c.1835C= (p.Thr612=) c.1976C= (p.Thr659=) n.2151C= | |
1 | g.247425419C>G | CA345558372 | NLRP3 | c.1970C>G (p.Thr657Ser) c.1835C>G (p.Thr612Ser) c.1976C>G (p.Thr659Ser) n.2151C>G | |
1 | g.247425419C>T | CA40692402 | NLRP3 | c.1970C>T (p.Thr657Ile) c.1835C>T (p.Thr612Ile) c.1976C>T (p.Thr659Ile) n.2151C>T | dbSNP |
1 | g.247425420C>A | CA424582984 | NLRP3 | c.1971C>A (p.Thr657=) c.1836C>A (p.Thr612=) c.1977C>A (p.Thr659=) n.2152C>A | |
1 | g.247425420C>G | CA424582983 | NLRP3 | c.1971C>G (p.Thr657=) c.1836C>G (p.Thr612=) c.1977C>G (p.Thr659=) n.2152C>G | |
1 | g.247425420C>T | CA424582982 | NLRP3 | c.1971C>T (p.Thr657=) c.1836C>T (p.Thr612=) c.1977C>T (p.Thr659=) n.2152C>T | |
1 | g.247425421A>C | CA424582985 | NLRP3 | c.1972A>C (p.Arg658=) c.1837A>C (p.Arg613=) c.1978A>C (p.Arg660=) n.2153A>C | |
1 | g.247425421A>G | CA345558373 | NLRP3 | c.1972A>G (p.Arg658Gly) c.1837A>G (p.Arg613Gly) c.1978A>G (p.Arg660Gly) n.2153A>G | |
1 | g.247425421A>T | CA345558374 | NLRP3 | c.1972A>T (p.Arg658Ter) c.1837A>T (p.Arg613Ter) c.1978A>T (p.Arg660Ter) n.2153A>T |